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Culture Documents
In some viruses
10
11
12
Q0007:Name that mutation: Same amino acid; often with a base change in 3rd position of codon
13
Silent mutation
14
15
Same amino acid; often with a base change in 3rd position of codon
16
17
Silent mutations
18
Q0010:Name that mutation: Changed amino acid whose structure is dissimilar to proper amino acid
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20
Q0011:Name that mutation: Changed amino acid whose structure is similar to proper amino acid
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22
23
Amino acid is changed. If the structure of the new amino acid is similar to the original; it is called conservative.
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25
26
27
28
Q0015:Name that mutation: change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
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30
31
change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
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33
34
35
multiple
36
37
single
38
39
40
41
Continuous bidirectional DNA synthesis on leading strand and discontinuous (Okazaki fragments) on lagging strand
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43
44
45
cuts one strand; passes the other through it then reanneals the cut strand
46
47
cuts both strands; and passes an unbroken double strand through it then reanneals the cut strand
48
49
Makes an RNA primer on which DNA polymerase III can initiate replication
50
51
1. Adds deoxynucleotides to the 3' end until it reaches primer of preceding fragment;2. 3' to 5' exonuclease activity "proofreads" each added nucleotide
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53
3' to 5'
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55
5' to 3'
56
57
3' to 5'
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60
61
62
63
3' to 5'
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65
5' to 3'
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67
5' to 3'
68
69
Separates the two strands of DNA into single strands allowing for replication to occur. The position of these separated strands is called the replication fork.
70
71
Single stranded;1. Nucleotide excision repair;2. Base excision repair;3. Mismatch repair;Double stranded;1. Nonhomologous end joining
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73
1. Specific endonucleases release the oligonucleotide containing damaged bases;2. DNA polymerase and ligase fill and reseal the gap; respectively
74
75
76
77
1. Specific glycosylases recognize and remove damaged bases;2. AP endonuclease cuts DNA at apyrimidinic site;3. Empty sugar is removed;4. Gap is refilled and resealed
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79
1. Unmethylated; newly synthesized string is recognized;2. Mismatched nucleotides are removed;3. Gap is refilled and resealed
80
81
82
83
Brings together two ends of DNA fragments (no requirement for homology)
84
85
Triphosphate
86
87
Hydroxyl group
88
89
True
90
91
False
92
93
True
94
95
False
96
97
True
98
99
False
100
101
Massive; Rampant; Tiny;mRNA is the largest type;rRNA is the most abundant type;tRNA is the smallest type
102
103
rRNA
104
105
mRNA
106
107
tRNA
108
109
110
111
112
113
114
115
False
116
117
True
118
119
120
121
122
123
124
125
126
127
128
129
Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus
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131
132
133
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135
Stretch of DNA that alters gene expression by binding transcription factors. May be located close to; far from; or even within the gene whose expression it regulates.
136
137
138
139
140
141
1. Primary transcript combines with snRNP ("snerp") to form spliceosome;2. Lariat-shaped intermediate is generated;3. Lariat is released to remove intron precisely and join two exons
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143
144
145
146
Q0074:What are the steps in processing hnRNA to make mRNA? (Note: This is more than splicing.)
147
1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on 3' end (approximately 200 As);3. Splicing out of introns
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149
75 to 90 nucleotides
150
151
152
Q0077:Amino acid binding to tRNA: Where (on the tRNA) and how?
153
154
155
156
157
1. Scrutinizes amino acid before it binds to tRNA;2. Binds AMP-amino group to 3' end of tRNA;3. Scrutinizes amino acid again. If incorrect; bond is hydrolyzed.
158
159
160
161
3rd position
162
163
164
165
1. Initiation factors assemble the 40S ribosomal subunit with the initiator tRNA;2. mRNA and (60S?) ribosomal subunit combine with the 40S subunit;3. Initiation factors are released.
166
167
1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase catalyzes peptide bond formation;3. Peptidyltransferase transfers growing polypeptide to amino acid in A site;4. Ribosome advances three nucleotides toward 3' end of RNA moving peptidyl RNA to P site.
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170
171
172
173
174
175
176
177
178
179
180
Q0091:Which post-translational modification involves removal of N or C terminal pro-peptides from zymogens to generate mature proteins?
181
Trimming
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184
185
186
187
188
189
190
191
192
193
194
195
Ubiquitin
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197
Ubiquinone
198
Q0100:Where in the cell does the following occur: Fatty acid oxidation (beta-oxidation)
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Mitochondria
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201
Mitochondria
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Mitochondria
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Cytoplasm
206
Q0104:Where in the cell does the following occur: Fatty acid synthesis
207
Cytoplasm
208
Q0105:Where in the cell does the following occur: Hexose Monophosphate Shunt
209
Cytoplasm
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214
215
216
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218
219
220
Q0111:What type of bonds hold the phosphoryls together in ATP; and how much energy are the bonds worth?
221
Phosphoanhydride bonds are worth 7 kilocalories per mole (but only between the alpha and beta and the beta and the gamma; thus AMP's phosphoryl is not cleaved off for energy)
222
223
224
225
Malate shuttle
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227
G3P shuttle
228
229
230
231
Phosphoryls
232
233
Electrons
234
235
Electrons
236
237
Electrons
238
239
Acyl
240
241
Acyl
242
243
CO2
244
245
1-carbon units
246
247
Methyl groups
248
249
Aldehydes
250
251
252
253
254
255
256
257
Biotin
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259
1. Tetrahydrofolates (originally as formyl then methyl);2. Biotin (as CO2);3. S-adenosyl-methionine (as CH3)
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261
1. S-adenosyl-methionine;2. N5-methyl-THF
262
263
N10-formyl-THF
264
265
Thiamine Pyrophosphate
266
267
S-adenosyl-methionine
268
269
270
271
Vitamin B12
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273
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275
1. Anabolic process (steroid and fatty acid synthesis);2. Respiratory burst;3. P-450
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277
HMP shunt
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280
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282
283
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285
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287
288
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290
291
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293
Found in the liver and pancreatic beta cells. Phosphorylates glucose to sequester it after a big meal.
294
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296
297
Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2 NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2 H+;5. 2 H20
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299
1. Hexokinase (Glucose to Glucose-6-P);2. *Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)
300
Q0151:Phosphofructokinase-1: What does it do; and what stimulates and inhibits it?
301
PFK-1 1-phosphorylates fructose-6-phosphate to produce Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need more of me);2. Citrate (my cycle is going well);Stimulated by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP (The fact that I'm being made means there's tons of glucose.)
302
Q0152:Pyruvate kinase: What does it do; and what stimulates and inhibits it?
303
Pyruvate kinase converts phosphoenolpyruvate to pyruvate; thereby producing two ATP;Inhibited by;1. ATP (don't need more of me);2. Alanine (I came from pyruvate; so we don't need any more.);Stimulated by;1. Fructose-1;6-BP (I was told we needed more ATP; so here I am; so you better move the line along.)
304
Q0153:Pyruvate dehydrogenase: What does it do; and what stimulates and inhibits it?
305
Pyruvate dehydrogenase converts pyruvate to acetyl-coA; and produces NADH and CO2;Stimulated by: excess pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't need anymore of me.);2. NADH (You produce NADH; soon there'll be more of me.);3. Acetyl-CoA (Enough of me; save your pyrvuate.)
306
307
Hemolytic anemia
308
Q0155:What is the mechanism of hemolytic anemia in someone with glycolytic enzyme deficiency?
309
1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of ATP leads to inactivity of Na; K-ATPase pump;3. Lack of the pump leads to sodium influx;4. Water follows sodium into the cell;5. The cell swells and bursts.
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311
Pyruvate kinase (95% of cases) followed by glucose phosphate isomerase (4% of cases)
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313
Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
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315
Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
316
Q0159:What are the net reactants and products in the reaction that Pyruvate Dehydrogenase catalyzes?
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318
319
Activated by exercise; which stimulates;1. Increased NAD/NADH ratio (We need more NADH.);2. Increased ADP (We need more ATP.);3. Ca2+ (More of me leads muscles to contract; and I'm taken up by mitochondria where I tell PDH that we need more ATP.);Inhibited by;1. NADH (No more of me please);2. ATP (likewise);3. Acetyl CoA (ditto)
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321
Lipoamide
322
323
324
325
Arsenic
326
327
328
329
330
331
332
333
334
335
Increased intake of ketogenic nutrients (such as high fat content or increased lysine and leucine)
336
Q0169:What are the miscellaneous fates of pyruvate; and what are the end products used for?
337
1. Alanine: Carries amino groups to the liver from muscle;2. Oxaloacetate: Replenishes TCA cycle or is used gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4. Lactate: No good use
338
339
340
341
342
343
Enzyme: Pyruvate Carboxylase (contains biotin and magnesium);Cofactors: CO2 and ATP
344
Q0173:What are the reactants and products in the reaction catalyzed by pyruvate carboxylase?
345
346
Q0174:What are the reactants and products in the reaction catalyzed by lactate dehydrogenase?
347
This reaction is reversible; so the products can switch with the reactants;Reactants;1. Pyruvate;2. NADH (rehydrogenates in this direction);3. H+;Products;1. Lactate;2. NAD
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349
Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate to/from pyruvate);Mitochondria;1. Pyruvate carboxylase (pyruvate to oxaloacetate);2. Pyruvate dehydrogenase (pyruvate to acetyl-coa)
350
351
In the liver and muscle/RBCs;Liver: Pyruvate converts to glucose;Muscle/RBCs: Glucose converts to Pyruvate
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353
Transfers excess reducing equivalents from RBCs and the muscle to liver so they can function anaerobically
354
355
356
357
CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cisAconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate
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359
1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9. citrate
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361
1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4. succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cisaconitate
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363
1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4. fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9. isocitrate
364
Q0183:What is the order of the citric acid cycle beginning at succinyl coA?
365
1. succinyl coA;2. succinate;3. fumarate;4. malate;5. oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alphaketoglutarate
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367
Sex Feels Marvelous Over Cordelia And If Kruti Sucks-aNeil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5. Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9. succinyl coA
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369
1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cisaconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9. succinate
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371
1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5. isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8. succinate;9. fumarate
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373
1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alphaketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9. malate
374
375
376
377
378
379
380
381
The steps where carbons are lost; the two structures after isocitrate each have one less carbon than the last;1. Isocitrate to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA
382
383
The only step that produces FADH2 is the only one that also yields an F product;1. Isocitrate to alpha ketoglutarate (1 NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3. Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate (1 NADH)
384
385
None; however 1 GTP is produced from the conversion of Succinyl CoA to Succinate.
386
Q0194:How much ATP is produced by the citric acid cycle per molecule of acetyl coA?
387
12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP
388
Q0195:How much ATP is produced by the citric acid cycle per molecule of glucose?
389
24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP per acetyl coA. However; there are 2 acetyl coA molecules produced per glucose molecule. Thus the total is 24.
390
Q0196:Name the complexes and important coenzymes and cytochromes in the electron transport chain.
391
1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome C;5. Complex IV;6. Complex V
392
Q0197:Where in the electron transport chain do NADH and FADH2 release their electrons?
393
Complex I
394
395
Complex IV
396
397
398
399
400
401
1. Directly inhibit electron transport causing;2. Decreased protein gradient and decrease in O2 consumption; thereby;3. Blocking ATP synthesis
402
403
1. Directly inhibit mitochondrial ATPase causing;2. Increased protein gradient and increased oxygen consumption; but no ATP is produced because electron transport stops.
404
405
"Uncouples" ATP synthesis from gradient production;1. Increase permeability of membrane;2. Proton gradient decreases; but oxygen consumption increases; as the gradient is not being maintained;3. ATP synthesis stops; but electron transport continues.
406
Q0204:What is rotenone?
407
408
409
410
411
412
Q0207:What is antimycin A?
413
414
415
ATPase inhibition
416
417
418
419
420
421
Uncoupling agent
422
423
424
Q0213:Name the irreversible enzymes in gluconeogenesis; and where they are found.
425
Pathway Produces Fresh Glucose;All the enzymes are found only in the liver; kidney; and intestinal epithelium;1. Pyruvate carboxylase in the mitochondria;2. PEP carboxykinase in the cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4. Glucose-6-Phosphatase in the endoplasmic reticulum
426
427
428
429
GTP
430
431
Cytoplasm of Red Blood Cells; and in lactating mammary glands; liver; and adrenal cortex (all sites of fatty acid or steroid synthesis except RBCs)
432
433
434
Q0218:What are the main products of the pentose phosphate shunt and their uses?
435
1. NADPH (for fatty acid and steroid synthesis; glutathione reduction; and cytochrome P-450);2. Ribose-5-phosphate (for nucleotide synthesis);3. G3P and F6P (glycolytic intermediates)
436
Q0219:What are the key enzymes of the pentose phosphate shunt and are the reactions reversible or irreversible?
437
438
439
440
441
Glucose-6-Phosphate Dehydrogenase
442
443
444
445
Hemolytic anemia
446
Q0224:Name some oxidizing agents that someone with a G6PD deficiency is vulnerable to.
447
448
449
450
451
Blacks
452
453
454
455
456
457
1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3. Decrease in available phosphate;4. Inhibition of glycogenolysis and gluconeogenesis
458
459
460
Q0231:What is the difference in presentation between von Gierke's disease and fructose intolerance?
461
Both have hypoglycemia; jaundice; cirrhosis and vomiting;von Gierke's disease also has lactic acidosis whereas fructose intolerance does not.
462
463
464
465
466
467
468
469
470
471
472
473
Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4. Diarrhea;5. Jaundice;Late;1. Cataracts;2. Hepatosplenomegaly;3. Mental retardation
474
475
1. Galactosemia;2. Galactosuria;More severe symptoms such as cataracts; hepatosplenomegaly and mental retardation can follow.
476
477
478
479
Aldose reductase
480
481
482
483
Galactokinase
484
485
Uridyl transferase
486
487
4-epimerase
488
489
490
491
492
493
494
495
Uridyl transferase
496
497
1. Blacks;2. Asians
498
499
500
501
502
503
504
505
PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4. Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8. Alanine;9. Leucine;10. Lysine
506
Q0254:What are the conditionally essential amino acids; and why are they conditionally essential?
507
The condition is age. They are necessary early in life during growth;Mnemonic: Babies CRY for Help;1. Cysteine;2. aRginine;3. tYrosine;4. Histidine
508
509
Cysteine
510
Q0256:Cysteine or Cystine: Two copies of the amino acid joined by a disulfide bond
511
Cystine
512
Q0257:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Phenylalanine
513
514
Q0258:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Valine
515
Essential;Glucogenic
516
Q0259:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tryptophan
517
518
Q0260:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Threonine
519
520
Q0261:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Isoleucine
521
522
Q0262:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Methionine
523
Essential;Glucogenic
524
Q0263:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Histidine
525
Essential;Glucogenic
526
Q0264:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Arginine
527
Essential;Glucogenic
528
Q0265:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Leucine
529
Essential;Ketogenic
530
Q0266:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Lysine
531
Essential;Ketogenic
532
Q0267:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tyrosine
533
Conditionally essential (during life and early growth);(Phenylalanine and Tetrahydrobiopterin produce tyrosine and dihydrobiopterin);Both glucogenic and ketogenic
534
Q0268:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamate
535
536
Q0269:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Aspartate
537
538
Q0270:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Proline
539
540
Q0271:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glycine
541
542
Q0272:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Cysteine
543
Conditionally essential (during life and early growth);(Methionine begets S-adenosyl methionine which begets intermediates which beget cysteine);Glucogenic
544
Q0273:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Alanine
545
546
Q0274:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Serine
547
Inessential (made from a descendant of 3PG and with an amine group from glutamate);Glucogenic
548
Q0275:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamine
549
550
Q0276:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Asparagine
551
552
553
554
555
Arginine; Lysine and Histidine;Arginine and Lysine are increased in histones which bind negatively charged DNA;Histidine has no charge at body pH.
556
557
"Delayed wound healing; hypogonadism; and decreased adult hair (axillary; facial; pubic)"
558
559
Alcoholic cirrhosis
560
561
"Step 1: Ethanol is oxidized by NAD (forming NADH) to acetaldehyde using alcohol dehydrogenase. Step 2: Acetaldehyde is oxidized by NAD (forming NADH) to acetate using acetaldehyde dehydrogenase."
562
563
NAD+
564
565
Zero-order kinetics
566
Q0284:Disulfiram: Mechanism
567
"Disulfiram inhibits acetaldehyde dehydrogenase; leading to an accumulation of acetaldehyde; leading to increased hangover symptoms."
568
569
Disulfiram
570
571
"1. Ethanol metabolism increases NADH/NAD ratio in the liver. 2. Pyruvate and oxaloacetate are reduced by NADH respectively to lactate and malate. 3. Decreased pyruvate and oxaloacetate leads to decreased gluconeogenesis. 4. Decreased gluconeogenesis leads to hypoglycemia."
572
Q0287:What are the consequences of the altered NADH/NAD ratio seen in alcoholics?
573
574
575
"1. Ethanol metabolism leads to an increased NADH/NAD ratio in the liver. 2. This ratio prefers fatty acid synthesis over glycolysis."
576
577
578
579
"Kwashiorkor results from protein-deficient MEALS. Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin lesions"
580
581
582
583
584
585
"Tissue and muscle wasting; loss of subcutaneous fat; and variable edema"
586
Q0294:"Chromatin structure: In the beads on a string analogy; what are the beads?"
587
"Start with a nucleosome core made up of an 8 histone cube (two each of positively-charged histones H2A; H2B; H3; and H4). Negatively charged DNA loops twice around nucleosome core."
588
Q0295:"Chromatin structure: In the beads on a string analogy; what is the string and how long is it?"
589
590
Q0296:Chromatin structure: What histones are included and which of these are not in the nucleosome core?
591
"H1 (only one not in the core); H2A; H2B; H3; and H4"
592
593
594
595
596
597
598
599
Heterochromatin
600
601
602
603
604
605
Guanine to Cytosine
606
607
Adenine to Thymine
608
Q0305:How many Hydrogen bonds does the Guanine to Cytosine pairing have?
609
610
Q0306:How many Hydrogen bonds does the Adenine to Thymine pairing have?
611
612
613
614
615
616
617
618
619
620
621
More than one codon may code for the same amino acid.
622
623
More than one codon may code for the same amino acid.
624
625
Methionine
626
627
2.3
628
629
"<4"
630
631
">4"
632
633
634
635
636
637
9.6
638
639
10
640
641
10.5
642
643
12.5
644
645
646
647
648
649
"C-terminal of methionine"
650
651
"C-terminal side of tyrosine; phenylalanine; and tryptophan (all have phenyl groups; these are the same bonds as chymotrypsin. Pepsin's action ceases when the NaHCO3 raises the pH of the intestinal contents)"
652
653
"C-terminal side of tyrosine; phenylalanine; and tryptophan residues (all have phenyl groups; these are the same bonds as pepsin; whose action ceases when the NaHCO3 raises the pH of the intestinal contents)."
654
655
3.6
656
657
658
659
660
661
"Carboxypeptidase"
662
663
664
665
"Anions"
666
667
"Cations"
668
669
"Cations"
670
671
"Anions"
672
673
674
675
"Antimycin A"
676
677
678
679
"RBCs"
680
681
682
683
"Epithelial cells of the intestine; renal tubular cells; and choroid plexus"
684
685
686
687
"Found in mitochondria of liver and kidney cells; not foudn in mitochondria of muscle"
688
689
690
691
692
693
"Regulation of F2;6-BP and inactivation of Pyruvate Kinase via elevation of cAMP-dependent protein kinase A."
694
Q0348:"This oxidation accounts for about two thirds of the total oxygen consumption and ATP production in most animals; including humans."
695
696
697
"Acetyl CoA and NADH (no need for more of either). These activate PD kinase (Phosphorylates enzyme with ATP; which must be in abundance; so no more is needed)"
698
699
700
701
"Dephosphorylated."
702
703
"ATP and NADH (no need for more of either); Succinyl CoA (""Slow down partner; the guys ahead of you are trying to do their job!""); Acyl CoA fatty acid derivatives (Citrate provides acetyl CoA to synthesize fatty acids and activates acetyl CoA carboxylase; rate limiting enzyme of fatty acid synthesis)."
704
705
"3 places: Pyruvate to Acetyl CoA; Isocitrate to alphaketoglutarate; and alpha-ketoglutarate to Succinyl CoA"
706
707
708
709
"ADP"
710
711
712
713
"TCA intermediate; and from odd chained fatty acids; and from propionyl coA from metabolism of branched-chain amino acids."
714
715
716
717
"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate; alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"
718
719
720
721
722
723
724
725
726
727
"1. Reductive biosynthesis (eg fatty acids and steroids) 2. Reduction of oxygen directly (myeloperoxidase system's famed respiratory burst) and hydrogen peroxide indirectly (through reduction of glutathione) 3. Cytochrome P-450 mono-oxygenase system"
728
729
730
731
732
733
734
735
736
Q0369:"What is a glycoside?"
737
738
739
740
741
"Osmotically active disaccharides suck water out of mucosa causing osmotic diarrhea."
742
743
744
745
746
747
"Aldolase B"
748
749
750
751
752
753
754
755
756
757
"Extra glucose freely enters cells containing aldose reductase which converts it to sorbitol. Sorbitol may not pass through; and low or absent sorbitol dehydrogenase prevents it from being changed to fructose. Strong osmotic effects lead to swelling and damage."
758
759
760
761
"Form proteoglycan aggregates. Cartilage: Bind collagen and hold fibers in a tight; strong network"
762
763
764
765
766
767
"Found in cartilage proteoglycan aggregates with chondroitin sulfate; and in cornea. Most heterogeneous GAG."
768
769
770
771
"Intracellular compound (unlike other GAGs). Found in mast cells of artery walls; especially in lungs; liver; and skin"
772
Q0387:"Heparin: Use/Mechanism"
773
"Anticoagulant"
774
775
"Extracellular; unlike heparin. Found in basement membrane and as a ubiquitous component of cell surfaces."
776
777
778
779
"Found in synovial fluid of joints; vitreous humor f eye; umbilical cord; and loose connective tissue. Unlike other GAGs: Unsulfated; not covalently attached to protein; and only GAG not limited to animal tissue; but also found in bacteria."
780
781
782
783
784
785
786
787
788
789
790
791
792
793
794
795
"Hunter's: X-linked Recessive; Hurler's (and all other mucopolysaccharidoses): Autosomal recessive"
796
797
798
799
"H: Hepatosplenomegaly/Heparan and Dermatan sulfate; U:Ugly facies; R: aRteries filled with GAGs; L: Liduronidase; E: Eyes clouded; early death; R: Retardation/Respiratory obstruction; S: Short/stubby fingers"
800
801
"Inability of cell to phosphorylate mannose residues on glycoproteins indicating that they are lysosome bound."
802
803
"Skeletal abnormalities; restricted joint movement; coarse facial features; severe psychomotor impairment; death by 8 years"
804
805
806
Q0404:What is PKU?
807
808
Q0405:What's one reason that binging on booze is a bad idea (aside from the ugly people you might sleep with;)?
809
alcohol-> increased NADH -> decreased gluconeogenesis -> acidosis -> huge ER bill
810
Q0406:What is Kwashiorkor?
811
812
Q0407:What's another reason for not being an alky (besides the meetings)?
813
pellegra- vitamin B3 deficit that gives you a rash; the shits; and altered mental status (even when sober)
814
Q0408:Why is my urine black and what the Hell are these black dots on my eyes?!
815
alkaptonuria
816
817
818
819
820
Q0411:Why could a person be deficient in fat soluble vitamins (esp considering that most of us have plenty of space to store these buggers!)?
821
think malabsorption- sprue; CF; too much of Mom's mineral oil tx (a spoon a day keeps the enema away!)
822
823
824
825
vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required for TPP (generates pyruvate) & transketolase (HMP shunt)
826
Q0414:What's the difference b/w wet & dry beriberi (other than that not so fresh feeling)?
827
828
Q0415:What happens when you don't get your riboflavin (B2) on?
829
it's important to have ribo-"flava" (not just b/c the chicks dig it) but FAD & FMN come from it; flava is not just a FAD but a Functionally Mandatory Necessity! not having flava causes angular stomatitis; cheliosis; & corneal vascularization (chicks don't dig this)
830
Q0416:What the Hell is Pantothenate? Is that the crap in Pantene that will give my hair lusterous shine upon one washing?
831
it's B5. it helps make CoA & fatty acid synthase (no wonder why i'm so damn sexy!); lack of B5 gives you dermatitis; enteritis; alopecia & adrenal insufficiency. com'on girls; no guy wants a flaky skinned; bald girlfriend who's adrenal glands don't put out; so take your vitamins!
832
Q0417:Was I absent the day we learned about pyridoxine (B6) or do I merely have a B6 deficiency?
833
I was probably in class the day they taught this but suffering from convulsions/hyperirritablity due to my B6 deficiency brought on by the stresses of med school. it turns out that B6 is needed for ALT; AST (transamination); decarboxylation; & heme synthesis.
834
835
B12 (aka cobalamin)required for homocysteine methylation & methylmalonyl-CoA handling; decreased homocysteine-> decreased methionine-> messed up myelin & increased methylmalonyl-CoA-> increased methylmalonic acid-> messed up myelin; vegetarians eat your heart out (no really; b/c its full of the B12 you'll need to thwart off macrocytic; megaloblastic anemia); US causes are due to malabsorption (vs dietary insufficiency); think sprue; Crohn's; pernicious anemia; do a Schilling test
836
Q0419:Why is folic acid so important? Does it justify all of the public service announcements?!
837
geeze; it's only important if you want to synthesize DNA/RNA! why the concern??
838
Q0420:What's biotin? Sounds like some tree hugging herbal medicine crap!
839
biotin is needed for carboxylating (eg oxaloacetate; malonyoCoA; methylmalonyl-CoA); deficits lead to dermatitis & enteritis due to antibiotic use or ingesting raw eggs (Rocky must have had some mad IBS!)
840
841
b/c we don't want rickets! there is such thing as too much of a good thing; though- too much vitamin D-> hypercalcemia; stupor (think sarcoidosis)
842
843
no Mom wants a kid w/scurvy unless she's British. vitamin C cross links collagen for healing; facilitates iron absorption; & needed for dopamine synthesis (is this why the British are so static?)
844
845
protects RBCs
846
847
K is for koagulation (spelling proficiency wasn't a requirement for med school matriculation); intestinal coodies are required for its synthesis (this is why babies & pts on broad spectrum anti-biotics have increased PT & PTT; warfin is it's nemesis (warfin is at war w/ vitamin K)
848
849
after much investigation; the family court ruled that vitamin K is responsible supporting its progenous clotting factors II; VII; IX; X; & protein C (until age 18 whereby his progeny will bleed to death)
850
Q0426:What vitamin keeps your testicles plump and your hair flowing? (Guys; take notes!)
851
zinc; aside from small balls and baldness; lack of zinc will cause delayed wound healing & predispose you to alcoholic cirrhosis!
852
Q0427:Explain ethanol metabolism (and don't say you're too drunk to remember!)
853
ethanol-> acetaldehyde-> acetate; requires alcohol dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH; NAD+ is limiting reagent
854
Q0428:What gives you a hang-over? Hint: the answer isn't St. Ides Malt Liquor (although this is justifiable).
855
856
Q0429:What is marasmus?
857
858
Q0430:What is a nucleosome?
859
it's the DNA AND core histones; the "beads" on the string that; altogether; comprise what's called chromatin
860
861
it's the histone that ties all the nucleosomes together. H1 is a rebel; not part of the core b/c it's too cool for the core.
862
863
this is the transcriptionally abstaining form of chromatin. it's very uptight (looped around histones). it's not promiscuous like that loose slut euchromatin.
864
865
866
867
868
869
besides sugar and spice and everything nice; purines require glycine; aspartate; and glutamine
870
871
872
873
b/c her writing is redundant and lacks punctuation. in her defense; her writing is also unambiguous & used universally
874
875
it's more palatable than a missense or nonsense mutation. think "it is better to remain silent & be thought a fool then to speak & remove all doubt". silent mutations are often the result of a tRNA wobble at the 3rd position (damn it tRNA; switch to decaf!)
876
877
it's replacing one aa with a similar aa. kind of like substituting a democrat with a republican.
878
879
880
881
this is really bad. its when your tRNA starts reading The Oddessy but becomes impatient & settles for the Cliff Notes.
882
883
884
885
DNA; like many of us; needs the motivation of another to function. primase is the muse of DNA. she (or he) makes the RNA primer on which DNA polymerase III can begin replication.
886
887
it may seem that DNA polymerase has no regrets and unaffectedly carries on in his 5'->3' direction. in truth; though; he is very aware of his past mistakes & corrects them in the 3'->5' direction with exonucleases.
888
889
she has always hated that tart; RNA primer. thus she uses her exonucleases to degrade RNA primer at any given chance & fills in the gaps w/DNA (she is much against interrelationships b/w RNA & DNA (she's a deoxyribose supremicist).
890
891
892
893
NO! we make a lot of messed up bases that glycolases remove by cutting the base out at a pyramimidic site.
894
895
if counseling doesn't work; then your body may hire a mismatch repair attorney. people w/hereditary nonpolyposis colon cancer lack access to litigation.
896
897
I=rRNA;II=mRNA;III=tRNA
898
899
II=mRNA poly. her nemesis is her mother-in-law alphaamantin (she thwarts all efforts of mRNA poly by serving her death cap mushrooms at all family get togethers).
900
901
902
903
think U Go Away; U Are Away; U Are Gone (geeze; mRNA can take a hint!).
904
Q0453:What is a promoter?
905
well DNA likes to be recognized for its contributions too. it takes a lot of work to make protein & this should be rewarded. DNA doesn't care about money; having a trust fund an all; DNA is rewarded for its efforts by being somewhat relieved of duty by RNA poly & other transcription factors. this only takes place after DNA has done most of the work & has reached a TATA or CAAT box.
906
Q0454:What is an enhancer?
907
area of DNA that attracts transcription factors that enhance gene expression.
908
Q0455:What is an operator?
909
area of DNA that attracts transcription factors that repress gene expression.
910
911
exons are what contribute to your growth while introns are just interuptions along the way (kind of like your first boyfriends); introns remain in the nucleus.
912
Q0457:How does hnRNA become whole in spite of all of her intron baggage?
913
well differences are the "splice" of life; so hnRNA discovers new meaning by redefining herself via new experiences. she decides to move on w/the aide of her snRP friends; forming a spliceosome alliance. They help her release her intron baggage; thereby allowing her to persue healthy relationships w/exons. happy w/the exons; hnRNA agrees to seal the deal by capping & polyadenylation (huge commitment). she is now referred to as mRNA (she's old fashioned & conceeded to the name change).
914
Q0458:What is Pellegra?
915
think 3D: diarrhea; dermatitis; dementia; caused by niacin (B3) def or a tryptophan def; B3 comes from tryptophan.
916
917
D2= ergocalciferol (drink milk); D3= cholecalciferol (get some sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form-> intestinal absorption of calcium & phosphate.
918
Q0460:What is tRNA?
919
transfer RNA is the pre-aminoacid. the amino acid is covalently attached to its 3' end.
920
921
922
923
it's the enzyme that makes the amino acid; there's 1 for every kind of amino acid; it is also a proof reader for its amino acid; it requires ATP to make a peptide bond but will read the transcript w/o it.
924
925
b/c it need only accurately read the first two nucleotides; then it can just insert whatever (hopefully a nucleotide that codes for the proper amino acid).
926
927
a 30S ribosome unit/initiator tRNA are hooked up w/the assistance of initiation factors
928
929
1. aminoacyl tRNA binds to A site 2. peptidyltransferase makes a peptide bond & transfers growing polypeptide chain to A site 3. ribosome cruises 3 nucleotides toward 3' RNA while moving peptidyl RNA to P site.
930
931
932
933
934
Q0468:what is trimming?
935
936
937
post-translational phosphor/glycos/hydroxylation.
938
939
940
941
by checkpoints that control the cell phases; regulators include cyclins; cdks; & tumor suppressors.
942
943
944
945
G1; S ; G2
946
947
it's where permanent cells stay if you refrain from dropping acid. neurons; skeletal mm; RBCs; cardiac mm.
948
949
although they are compliant w/their Prosac tx; they are also capable of entering G1 if stimulated; otherwise they'll stay in G1; hepatocytes; lymphocytes
950
951
they never Go; they are always movin' rapidly; though; marrow; gut epithelium; hair
952
953
synthesis of exported secretory proteins & N-linked oligosaccharide addition (eg goblet cells & plasma cells are rich w/rough ER).
954
955
956
957
processing & packaging of proteins & lipids from ER to plasma membrane; modifies N-oligosaccharides on asparagine; adds O-oligisaccharides to serine & threonine; adds mannose6-P; assembles & sulfates proteoglycans & tyrosine.
958
959
when mannose-6-P addition by the golgi doesn't target lysosome proteins to lysosome; coarse face; clouded corneas; restricted jiont movement; high plasma lysosomal enzymes; fatal in childhood.
960
Q0481:What is COPI?
961
962
Q0482:What is COPII?
963
964
Q0483:What is clathrin?
965
vesicular trafficking protein; trans-golgi -> lysosomes; plasma membrane -> endosomes.
966
967
polymerized dimers of alpha/beta-tubulin; 2GTP bound/dimer; part of flagella; cilia; & spindles.
968
969
970
971
972
973
974
975
976
977
978
979
component of RBC membrane; myelin; bile; & surfactant; esterfies cholesterol (eg LCAT).
980
981
982
983
type 1= bone; skin; tendon; cornea; type II= catilage; type III = reticulin; type VI= basement membrane.
984
985
fibroblasts.
986
987
preprocollagen synthesized in RER-> hydroxylation (req Vitamin C)-> glycosylation in golgi & synthesis of procollagen; exocytosis; proteolysis into tropocollagen; crosslinking forms collagen fibrils.
988
989
defective collagen synthesis; hyperextendible skin; bruising; hypermobile joints; assoc w/berry aneurysms; inherited.
990
991
abnormal type I collagen synthesis; autosomal dominant; fractures; blue sclerae; hearing loss; dental problems.
992
993
defective fibrillin.
994
995
non-hydroxylated proline & lysine; elastin= tropoelastin + fibrillin scaffolding; elastase allows relaxed form; alpha1antitrypsin inhibits elastase.
996
997
998
999
glycolysis; fatty acid synthesis; TTP shunt; protein synthesis (RER); steroid synthesis (SER).
1000
1001
1002
1003
1004
Q0503:What is NADPH?
1005
electron acceptor used in anabolic processes (eg steroid synthesis); respiratory burst; & P-450; comes from the TPP shunt.
1006
1007
deficit of NADPH oxidase (makes bleach out of O2); neutrophils can't kill bugs
1008
1009
1010
1011
the enzyme + vitamins B1;2;3;5; + lipoic acid; makes pyruvate into acetyl-CoA; activated by excercise.
1012
1013
1014
1015
1016
1017
1018
1019
rotenone; CN-; antimysin A; CO (e- transport inhibitors); oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin (uncouplers).
1020
1021
cannot generate G6PD that is required to reduce glutathionine that detoxifies the free rads & peroxides; RBC's are especially susceptible to oxidizing agents & will form hemoglobin precipitates (Heinz bodies); Blacks; X-linked recessive.
1022
1023
recessive; fructose accumulation; inhibition of glycogenolysis & gluconeogenesis; hypoglycemia; jaundice; cirrhosis; vomiting.
1024
1025
1026
Q0514:What is galactosemia?
1027
autosomal recessive; absence of galactose-1-P uridyltransferase; accumulation of toxins (eg galactitol); cataracts ; hepatosplenomegaly; mental retardation
1028
1029
phe; val; thr; trp; ile; met; his; arg; leu; lys
1030
Q0516:What is hyperammonemia?
1031
can be acquired (eg liver damage) or hereditary (eg ornithine transcarbamoylase def); excess NH4+ -> inhibition of Kreb's cycle; tremor; slurring; vomiting; cerebral edema; blurred vision; somnolence.
1032
1033
1034
1035
1036
1037
increases: glucose transport; glycogen synthesis/storage; TG synthesis/storage;Na+ retention; protein synthesis (muscles).
1038
1039
1040
Q0521:What role does adrenaline (aka epinephrine) play in glycogenensis & glycogenolysis?
1041
1042
1043
muscle metabolizes glucose fast; the liver acts to maintain blood sugar levels.
1044
1045
acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetylCoA + biotin (cytoplasm)-> malonyl CoA-> FA
1046
1047
FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle (matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA groups.
1048
1049
FA + aminoacids in the liver -> acetoacetate + betahydroxybutyrate. these products can be used in leiu of glucose during fasting & diabetes for the brain & muscle; fruity breath.
1050
1051
HMG-CoA reductase is the rate limiting step; converts HMG-CoA to mevalonate; most cholesterol gets esterfied by LCAT.
1052
1053
1054
1055
1056
1057
1058
1059
1060
1061
degrades TG in IDL.
1062
1063
degrades TG in adipocytes.
1064
1065
esterfies cholesterol.
1066
1067
1068
1069
activates LCAT.
1070
1071
1072
1073
1074
1075
1076
1077
1078
1079
1080
1081
1082
1083
B-48; A;C;E.
1084
1085
1086
1087
B-100; C-II; E
1088
1089
comes from VLDL degradation. takes TGs & cholesterol to liver to process into LDL.
1090
1091
B-100; E.
1092
1093
takes liver cholesterol to peripheral tissues; formed from VLDL via lipoprotein lipase in peripheral tissue.
1094
1095
B-100.
1096
1097
takes peripheral cholesterol to liver; also a storage for apoC & apoE for chylomicron & VLDL metabolism; secreted by liver & intestine.
1098
1099
1100
1101
1102
1103
1104
1105
increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2 unloading; shifts curve right.
1106
1107
travels as bicarbonate in blood to lungs; binds to globin (not heme); favors T form of heme.
1108
Q0555:What is methemoglobin?
1109
this is oxidized hemoglobin (Fe3+) that prefers CN- over O2; push nitrates!
1110
Q0556:What is carboxyhemoglobin?
1111
1112
1113
1114
1115
1116
1117
Glucose-6-Phosphate
1118
1119
1. ATP;2. citrate
1120
1121
1. AMP;2. fructose-2;6-BP
1122
1123
1. ATP;2. alanine
1124
1125
fructose-1;6 BP
1126
1127
1128
1129
1130
1131
pyruvate kinase
1132
1133
pyruvate dehydrogenase
1134
1135
1136
1137
1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4. triosephosphate isomerase;5. phosphate glycerate kinase;6. enolase;7. pyruvate kinase
1138
1139
1140
1141
1142
1143
1144
1145
SOD
1146
1147
1148
1149
1150
1151
1152
1153
Glucose-6-phosphate dehydrogenase
1154
1155
1156
1157
3 enzymes
1158
1159
1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic acid;(First 4 B vitamins plus lipoic acid)
1160
1161
1162
1163
Vitamin B2 (riboflavin)
1164
1165
Vitamin B3 (niacin)
1166
1167
Vitamin B5 (pantothenate)
1168
1169
1170
1171
1172
Q0587:PDH complex is similar to what other complex by having the same cofactors; similar substrate; and similar action?
1173
1174
1175
1176
Q0589:Alcoholism with a Vitamin B1 deficiency can also cause what (besides Wernicke-Korsakoffe)?
1177
1178
1179
neurologic deficits
1180
1181
1. increase intake of KETOGENIC nutrients (high fat content);2. increase intake of LEUCINE and LYSINE
1182
1183
1184
1185
1186
1187
ALT
1188
1189
1190
1191
1192
1193
1194
1195
Cori cycle transfers excess reducing equivalents from RBCs and muscle --> liver; allowing muscle to function anaerobically.
1196
Q0599:In the TCA cycle; what are the products per one acetyl CoA?
1197
1198
Q0600:How many ATP are produced from a single acetylCoa in the TCA cycle?
1199
1200
Q0601:How many ATP are produced from a single glucose molecule in the TCA cycle?
1201
24 ATP
1202
Q0602:In the TCA cycle; what are the products per one glucose molecule?
1203
1204
1205
PDH in glycolysis
1206
1207
1208
1209
ATP
1210
1211
1212
1213
Isocitrate dehydrogenase
1214
1215
1. ATP;2. NADH
1216
1217
ADP
1218
Q0610:What two molecules are released in the conversion of Isocitrate into alpha-KG?
1219
1. CO2;2. NADH
1220
1221
alpha-KG DH
1222
Q0612:What two molecules are released in the conversion of alpha-KG into Succinyl CoA?
1223
1. CO2;2. NADH
1224
1225
1226
1227
1. GTP;2. CoA
1228
1229
FADH2
1230
1231
NADH
1232
1233
1234
1235
1236
1237
1238
1239
1240
1241
Oligomycin
1242
1243
1244
1245
NO
1246
Q0624:The pentose phosphate pathway (HMP Shunt) produces [;] from G6P for nucleotide synthesis
1247
ribose-5-P
1248
Q0625:The Pentose Phosphate Pathway (HMP Shunt) produces [;] from [;] for FA and steroid biosynthesis and for maintaining reduced glutathione inside RBCs.
1249
1250
1251
cytoplasm
1252
1253
NO
1254
Q0628:What are the organs involved in the HMP Shunt (Pentose Phosphate Pathway)?
1255
1. lactating mammary glands;2. liver;3. adrenal cortex;4. all sites of FA or steroid synthesis
1256
1257
G6PD
1258
Q0630:Hemolytic anemia is caused by a decrease in [;] in RBCs due to poor RBC defense against oxidizing agents.
1259
NADPH
1260
Q0631:What are the oxidizing agents involved in hemolytic anemia due to a G6PD deficiency?
1261
1262
1263
1264
1265
X-linked recessive
1266
1267
1. 6-PG;2. NADPH
1268
1269
1270
1271
2 GSH (reduced)
1272
1273
Fructokinase
1274
1275
Aldolase B
1276
1277
1278
1279
1280
1281
1282
1283
1. DHAP;2. glyceraldehyde
1284
1285
Triose kinase
1286
1287
Galactose-1-phosphate uridyltransferase
1288
1289
1290
1291
1292
1293
1294
1295
1296
1297
4-epimerase
1298
1299
1300
1301
1302
1303
1304
1305
1306
1307
Histidine
1308
1309
Arginine
1310
1311
1312
1313
NADPH
1314
1315
amino acids
1316
1317
Urea Cycle
1318
1319
liver
1320
1321
mitochondria
1322
Q0662:Where do the remaining steps of the Urea Cycle occur; besides the mitochondria?
1323
cytosol
1324
1325
Urea
1326
1327
1328
1329
1330
1331
1332
1333
1334
1335
1336
1337
1338
1339
1340
1341
1/10;000
1342
1343
Phenylalanine hydroxylase
1344
1345
dihydropterin reductase
1346
1347
1. deficiency of TYROSINASE (inability to synthesize malanin from tyrosine);2. Defective tyrosine transporters (DECREASE amounts of tyrosine and thus melanin)
1348
1349
Albinism
1350
Q0676:Full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the D(x)?
1351
PKU
1352
Q0677:Stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?
1353
NADH increase prevents gluconeogenesis by shunting pyruvate and OAA to lactate and malate.
1354
Q0678:2-year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the D(x)?
1355
Kwashiorkor
1356
Q0679:Alcoholic develops a rash; diarrhea; and altered mental status. What is the vitamin deficiency?
1357
Vitamin B3 (pellagra)
1358
Q0680:51-year-old man has black spots in his sclera and has noted that his urine turns black uon standing. What is the D(x)?
1359
Akaptonuria
1360
Q0681:25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendon. What is the disease; and where is the defect?
1361
1362
1363
1364
1365
1366
1367
viruses
1368
1369
1370
Q0686:[;] makes an RNA primer on which DNA polymerase III can initiate replication in PROKARYOTIC DNA replication.
1371
Primase
1372
1373
DNA polymerase I
1374
Q0688:DNA polymerase III has [;] synthesis and proofreads with [;] exonuclease
1375
5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III for PROKARYOTES)
1376
Q0689:In PROKARYOTIC DNA replication; DNA polymerase I excises the RNA primer with a [;] exonuclease
1377
1378
1379
1380
1381
1382
1383
LEADING-strand DNA
1384
1385
LAGGING-strand DNA
1386
1387
MITOCHONDRIAL DNA
1388
1389
DNA repair
1390
Q0696:X-rays can damage DNA; and a repair defect can cause what?
1391
ataxia-telangiectasia
1392
Q0697:Radiation can damage DNA; and a repair defect can cause what?
1393
Bloom's syndrome
1394
Q0698:Cross-linking agents can damage DNA; and a repair defect can cause what?
1395
Fanconi's anemia
1396
1397
1398
1399
N --> C
1400
1401
1402
1403
NO
1404
1405
RNA polymerase II
1406
1407
1408
1409
yes
1410
1411
1412
1413
transcription factors
1414
1415
1416
1417
processed
1418
1419
lower
1420
1421
Synthesis of DNA
1422
1423
G1 phase
1424
1425
mitosis
1426
1427
Go
1428
1429
1430
1431
1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS Ooligosaccharides to serine and threOnine;3. sulfation of sugars on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of mannose-6-phosphate to lysosomal proteins; which targets the protein to the lysosome.
1432
1433
1434
1435
1. helical;2. alpha + beta tubulin dimers (2 GTP bound each);3. forms flagella; cilia; and mitotic spindles
1436
1437
1438
1439
phagocytosis
1440
1441
1442
1443
immotile cilia
1444
Q0723:What 2 components in the plasma cell membrane can INCREASE the melting temperature?
1445
1446
1447
1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl Phosphatidyl Choline);5. esterification of cholesterol (LCAT)
1448
1449
K+ site
1450
1451
collagen
1452
1453
1454
1455
1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous body;3. nucleus pulposus
1456
1457
1458
1459
1. B.asement membrane;2. basal lamina "Type IV: under the FLOOR (basement membrane)"
1460
1461
epiphyseal plate
1462
Q0732:What is the mnemonic for the first four collagen types (I-IV)?
1463
1464
1465
collagen alpha chains (PREPROCOLLAGEN) translated on RER--usually Gly-X-Y polypeptide (X and Y are proline; hydroxyproline; or hydroxylysine)
1466
1467
1468
1469
Golgi --> glycosylation of pro-alpha-chain lysine residues and formation of PROCOLLAGEN(triple helix of 3 collagen alpha chains)
1470
1471
1472
1473
PROCOLLAGEN peptidases cleave terminal regionals of PROCOLLAGEN; transforming PROCOLLAGEN into insoluble TROPOCOLLAGEN
1474
Q0738:What is the 6th and last step in colagen synthesis OUTSIDE fibroblasts?
1475
staggered TROPOCOLLAGEN molecules are reinforced by covalent lysine-hydroxylysine cross-linkage (by lysyl oxidase) to make COLLAGEN FIBRILS
1476
1477
1. faulty collagen synthesis;2. hyper-extensible skin;3. easy bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6. type III collagen (reticulin: blood vessels; skin);7. mitral valve prolapse;8. CAN'T make COLLAGEN FIBRILS from TROPOCOLLAGEN!
1478
1479
1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty collagen synthesis;3. brittle bone disease;4. translucency of CT over choroid (blue sclerae);5. hearing loss: abnormal middle ear bones;6. lack of dentition;7. Type II OI: fatal;8. Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN from PREPROCOLLAGEN
1480
1481
1482
1483
1484
1485
1. H.eme synthesis;2. U.rea cycle;3. G.luconeogenesis;"H.U.G. both the mitochondria and cytoplasm for their metabolism."
1486
1487
Galactokinase
1488
1489
Galactose-1-phosphate uridyltransferase
1490
1491
Galactose-1-phosphate uridyltransferase
1492
1493
Glucose-6-phosphatase
1494
1495
1496
1497
G6PD
1498
1499
transketolase
1500
1501
fructokinase
1502
1503
Aldolase B
1504
1505
aldolase B
1506
1507
pyruvate kinase
1508
1509
pyruvate dehydrogenase
1510
1511
1512
1513
HMG-CoA reductase
1514
1515
pyruvate carboxylase
1516
1517
PEP carboxykinase
1518
1519
citrate synthase
1520
1521
alpha-ketoglutarate dehydrogenase
1522
1523
ornithine transcarbamylase
1524
1525
malate shuttle
1526
1527
G3P shuttle
1528
1529
1530
1531
biotin
1532
1533
tetrahydrofolate
1534
1535
TPP
1536
1537
CDP-choline
1538
1539
B12
1540
1541
1542
1543
1544
Q0773:Glucose -> G6P; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
1545
glucokinase/hexokinase
1546
Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
1547
Phosphofructokinase (PFK)
1548
1549
pyruvate kinase
1550
Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
1551
citrate synthase
1552
Q0777:a-ketoglutarate -> succinate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
1553
a-ketoglutarate dehydrogenase
1554
Q0778:How many ATP are produced from one glucose molecule in anaerobic glycolysis?
1555
2 ATP produced
1556
Q0779:How many ATP are produced from one glucose molecule in aerobic metabolism?
1557
1558
1559
NADPH used in anabolic processes (steroid and fatty acid synthesis) and ribose 5-phosphate for nucleotide synthesis
1560
1561
1562
1563
ubiquitous
1564
1565
1566
1567
Glucose 6-Phosphate
1568
1569
in the liver
1570
1571
1572
1573
Cytoplasm
1574
Q0788:Which enzyme is activated in the fasting state converting fructose-6-phosphate to fructose 2;6bisphosphate?
1575
PFK2
1576
Q0789:Which enzyme is activated in the fed state converting fructose-2;6-bisphosphatase to fructose 6-phosphatate?
1577
fructose bisphosphatate-2
1578
Q0790:What molecule is the most potent activator of phosphofructokinase; converting fructose-6-phosphate to fructose 1;6-phosphate
1579
Fructose 2;6 BP
1580
1581
1582
1583
1584
1585
1586
Q0794:How many ATP equivalents are needed to generate glucose from pyruvate?
1587
6 ATP equivalents
1588
1589
1590
1591
transfers excess reducing equivalents from RBCs and muscle to the liver; shifts the metabolic burden to the liver
1592
1593
Citrate > isocitrate > a-ketoglutarate > succinyl CoA > succinate > fumate > malate > OAA
1594
1595
1596
1597
Complexes I; III; IV
1598
Q0800:In oxidative phosphorylation; how many ATP are produced from 1 NADH?
1599
3 ATP
1600
Q0801:In oxidative phosphorylation; how many ATP are produced from 1 FADH2?
1601
2 ATP
1602
1603
1604
Q0803:What are the 4 irreversible enzymes of gluconeogenesis and where are they located?
1605
1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase (PEPCK; cytosol);3. Fructose 1;6-bisphosphatase (cytosol);4. Glucose 6-phophotase (ER)
1606
1607
liver; kidney; intestinal epithelium;muscle does not contain G6Ptase and cannot participate in gluconeogenesis
1608
1609
hypoglycemia
1610
1611
1612
Q0807:In what part of the cell does the HMP shunt occur?
1613
cytoplasm
1614
Q0808:What enzyme is required for the irreversible reaction of the HMP shunt producing NADPH?
1615
Glucose-6-phosphate dehydrogenase
1616
1617
Ribose-5-phosphate (for nucleotide synthesis) and Glyceraldehyde 3-phosphate; fructose 6phosphate(intermediate of gyloslysis)
1618
1619
1620
1621
1622
1623
1624
1625
Brain;RBCs;Intestine;Cornea;Kidney;Liver
1626
1627
increased glucose transport;increased glycogen synthesis and storage;increased triglyceride synthesis and storage;increased Na retention;increased protein synthesis
1628
1629
1630
1631
1632
1633
G6P > G1P > UDP-glucose > branched version > limit dextran > debranched glycogen
1634
1635
1636
1637
severe fasting hypoglycemia; high glycogen in the liver; increased blood lactate; hepatomegaly
1638
1639
Glucose-6-phosphate
1640
1641
1642
1643
1644
1645
Milder form of Van Gierke's (Type I) with normal blood lactate levels
1646
1647
1648
1649
increased glycogen in muscle but cannot break it down -> painful cramps and myoglobinuria with strenuous exercise
1650
1651
1652
Q0827:A full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the dx?
1653
PKU
1654
Q0828:A stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?
1655
Increase in NADH prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
1656
Q0829:A 2 year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the dx?
1657
Kwashiorkor
1658
Q0830:Alcoholic develops a rash; diarrhea; and altered mental status. What is the Vitamin Deficiency?
1659
Vitamin B3 (pellagra)
1660
Q0831:A 51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is his dx?
1661
Alkaptonuria
1662
Q0832:A 25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons. What is the dz and where is the defect?
1663
1664
Q0833:A woman complains of intense muscle cramps and darkened urine after exercise. What is the dx?
1665
McArdle's Dz
1666
Q0834:Two parents with albinismhave a sone who is normal. Why is the son not affected?
1667
Locus heterogeneity
1668
Q0835:A 40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?
1669
A;D;E;K
1670
1671
A;D;E;K
1672
1673
1674
1675
Malabsorption syndromes such as CF; celiac sprue; miner oil intake can also cause deficiencies
1676
1677
B1; B2;B3;B5;B6;B12;C;Biotin;Folate
1678
Q0840:Which water soluble vitamin does NOT wash out of the body easily and why?
1679
1680
1681
1682
1683
Retinol
1684
1685
1686
1687
1688
1689
1690
1691
thiamine
1692
1693
1694
1695
a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
1696
1697
riboflavin
1698
1699
1700
1701
1702
1703
niacin
1704
1705
1706
1707
1708
1709
pantothenate
1710
1711
1712
1713
1714
1715
1716
1717
needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
1718
1719
1720
1721
1722
1723
1724
1725
thiamine
1726
1727
a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
1728
1729
riboflavin
1730
1731
1732
1733
1734
1735
niacin
1736
1737
1738
1739
1740
1741
pantothenate
1742
1743
1744
1745
1746
1747
pyridoxine
1748
1749
1750
1751
1752
1753
cobalamin
1754
1755
1756
1757
1758
1759
1760
1761
Schilling Test
1762
1763
Malabsorption; lack of intrinsic factor (pernicious anemia) or absence of terminal ileum (chron's dz)
1764
1765
1766
1767
coenzyme for 1-carbon transfers (methylation rxns); needed for the synthesis of nitrogenous bases in DNA and RNA
1768
1769
neural tube
1770
1771
PABA
1772
1773
dermatitis; enteritis
1774
1775
cofactor for carboxylation rxns: pyruvate -> oxaloacetate; Acetyl CoA -> malonyl CoA; Proprionyl CoA -> methylmalonyl CoA
1776
1777
Ascorbic acid
1778
1779
1780
1781
needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
1782
1783
Rickets in children and osteomalacia in adults (improper bone mineralization); hypocalcemic tetany
1784
1785
1786
1787
less D -> less Ca -> lowering the membrane potential of a cell -> making it easier to get to threshold for AP
1788
1789
1790
1791
1792
1793
1794
1795
Neonatal hemorrhage with increased PT and PTT; but normal bleeding time (neonates unable to synthesize Vit K)
1796
1797
Catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with clotting; synthesized by intestinal flora
1798
1799
1800
1801
1802
1803
Warfarin
1804
1805
1806
1807
1808
1809
NAD+
1810
1811
zero-order
1812
Q0907:Which drug inhibits acetaldehyde dehydrogenase allowing for the accumulation of acetaldehyde and increasing hangover symptoms?
1813
Disulfiram (anabuse)
1814
1815
Ethanol metabolism -> increased NADH/NAD+ ratio in liver -> pyruvate diverts to lactate and OAA diverts to malate -> inhibition of gluconeogenesis
1816
1817
protein
1818
1819
1820
1821
calories/energy
1822
1823
1824
1825
(-)charged DNA loops choice around nucleosome core to form a nucleosome bead; H1 ties the nucleosomes together in a string
1826
1827
H1
1828
1829
1830
1831
1832
Q0917:Which nucleotide bonds are stronger and what is the consequence of this?
1833
1834
1835
1836
1837
1838
1839
1840
1841
more than one codon may code for the same amino acid
1842
1843
Glycosylases remove damaged bases; endonuclease cuts DNA at apyrimidinic site; sugar is removed; gap is filled and resealed
1844
1845
unmethylated; newly synthesized string is recognized; mismatched nucleotides are removed; gap is filled and resealed
1846
1847
mismatch repair
1848
1849
1850
1851
1852
1853
N to C
1854
1855
1856
1857
rRNA
1858
1859
mRNA
1860
1861
tRNA
1862
1863
makes rRNA
1864
1865
Makes mRNA
1866
1867
makes tRNA
1868
1869
a-amanitin
1870
1871
AUG
1872
1873
1874
1875
Mitosis
1876
1877
S phase
1878
Q0940:What type of cells remain in Go and are regenerated from stem cells?
1879
1880
1881
1882
Q0942:What type of cells never go to Go and divide rapidly with a short G1?
1883
Labile cells such as bone marrow; gut epithelium; skin; and hair follicles
1884
1885
synthesis of secretory (exported) proteins and N-linked oligosaccharide addition to many proteins
1886
1887
Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells
1888
1889
1890
1891
1892
1893
1894
1895
taking protwins and lipids from the ER to the PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd mannose-6P to lysosomal proteins (targeting to lysosome); 5. prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans
1896
Q0949:What is the pathophys of I-cell disease and what are the consequences?
1897
mannose-6P cannot be added to the lysosomal proteins so enzymes are secreted out of the cell instead of being targeted to the lysosome
1898
1899
coarse facial features; clouded corneas; restricted joint movement; high plasma levels of lysosomal enzymes. Can be fatal in childhood
1900
Q0951:What are the three main cvesicular trafficking proteins and where do they go?
1901
1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde; RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma membrane->endosomes (receptor mediated endocytosis)
1902
1903
1904
Q0953:What are the four main drugs that act on microtubules and for what dz?
1905
1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (antibreast ca); 3. Grisofulvin (antifungal); 4. Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)
1906
1907
Chediak-Higashi
1908
1909
9+2 arrangement of microtubules; doublets linked by dynein ATPase and allows for the bending of cilia
1910
1911
1912
1913
1914
1915
infertility in both males and females; bronchiectasis; recurrent sinitus (any place where cilia are moving things around)
1916
Q0959:What are the two most abundant components of the plasma membrane?
1917
1918
Q0960:What is the major component of RBC membranes; myelin; bile and surfactant?
1919
phosphatidylcholine (lecithin)
1920
1921
3 Na out:2 K in
1922
1923
1924
1925
collagen
1926
1927
Type I
1928
1929
1930
1931
1932
1933
1934
1935
1936
Q0969:What are the four phases of collagen synthesis in the fibroblasts and where do they take place?
1937
1938
Q0970:What are the two phases of collagen synthesis that occur outside of the fibroblasts?
1939
1940
1941
hydroxylation in the ER
1942
1943
1944
1945
1946
1947
1948
1949
1. multiple fractures from minimal trauma (brittle bone); 2. blue sclerae (translucency of connective tissue over the choroid); 3. hearing loss; 4. dental imperfections
1950
1951
child abuse
1952
Q0977:For the following cell type; state the immunohistochemical stain used to see it: connective tissue
1953
Vimentin
1954
Q0978:For the following cell type; state the immunohistochemical stain used to see it: Muscle
1955
Desmin
1956
Q0979:For the following cell type; state the immunohistochemical stain used to see it: Epithelial cells
1957
cytokeratin
1958
Q0980:For the following cell type; state the immunohistochemical stain used to see it: Neuroglia
1959
1960
Q0981:For the following cell type; state the immunohistochemical stain used to see it: neurons
1961
neurofilaments
1962
1963
1964
1965
1966
1967
fibrillin
1968
1969
a1-antitrypsin deficiency
1970
1971
Chediak-Higashi
1972
1973
Aldolase B
1974
1975
fructose-1-P accumulates causing decreased available phosphate resulting in inhibition of glycogenolysis and gluconeogenesis
1976
1977
1978
1979
fructokinase
1980
1981
galactose-1-phosphate uridyltransferase
1982
1983
AR
1984
1985
1986
Q0994:Lactase deficiency is a hereditary lactose intolerance due to a loss of what type of enzyme?
1987
1988
Q0995:What demographic is most susceptible to lactase deficiency and what are the sx?
1989
1990
1991
Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys
1992
1993
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
locus heterozygosity
2004
2005
2006
2007
autosomal recessive
2008
2009
mental retardation; osteoporosis; tall stature; kyphosis; lens subluxation; atherosclerosis (stroke and MI)
2010
2011
2012
2013
Blocked degradation of branced amino acid (Ile; Val; Leu) due to decreased a-ketoacid dehydrogenase
2014
2015
2016
Q1009:Adenosine deanimase deficiency can cause what other major immunologic complication?
2017
SCID
2018
Q1010:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Fabry's Dz
2019
2020
Q1011:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Gaucher's Dz
2021
1. hepatosplenomegally; aseptic necrosis of femur; bone crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3. glucocerebroside;4. AR;Most common lysosomal storage dz
2022
Q1012:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Neimann-Pick
2023
1. progressive neurodegeneration; hepatosplenomegally; cherry red spot (on macula);2. Sphingomyelinase;3. Shingomyelin;4. AR
2024
Q1013:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Tay-Sachs
2025
1. progressive neurodegeneration; developmental delay; lysozymes with onion skin;2. Hexosaminidase A;3. GM2 ganglioside;4. AR
2026
Q1014:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Krabbe's dz
2027
2028
Q1015:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Metachromic leukodystrophy
2029
1. central and peripheral demyelination with ataxia and dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR
2030
Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA to Malonyl CoA requires what cofactor?
2031
Biotin
2032
Q1017:In fatty acid synthesis; what mechanism carries acetyl CoA across the inner mitochondril membrane into the cytoplasm?
2033
Citrate shuttle
2034
Q1018:In fatty acid degradation; what mechanism carries acyl CoA across the inner mitochondrial membrane into the mitochondria?
2035
carnitine shuttle
2036
2037
Carnitine shuttle
2038
2039
2040
2041
HMG-CoA reductase
2042
2043
2044
2045
2046
2047
degradation of TG in sm intestine
2048
2049
2050
2051
2052
2053
2054
2055
2056
2057
2058
2059
activates LCAT
2060
2061
2062
2063
2064
2065
2066
2067
2068
2069
2070
2071
2072
2073
2074
2075
2076
2077
2078
2079
B-100 and E
2080
2081
2082
2083
B-100
2084
2085
mediates centripital transport of cholesterol (periphery to liver); repository for apoC and apoE
2086
2087
2088
2089
2090
2091
2092
2093
2094
2095
2096
2097
glycolysis; FA synthesis; HMP shunt; protein synthesis (RER); steroid synthesis (SER)
2098
Q1050:What metabolic processes occur in both the mitochondria and the cytoplasm?
2099
2100
2101
B12
2102
Q1052:What three enzymes are associated with respiratory burst in the phagolysosome?
2103
2104
Q1053:What three enzymes are associated with oxidative burst in the neutrophil?
2105
2106
2107
aldolase B
2108
2109
2110
2111
2112
2113
2114
Q1058:the appearance of fructose in the blood or urine is due to a defect in what enzyme? What is the px?
2115
2116
2117
galactose-1-phosphate uridyltransferase
2118
2119
2120
Q1061:Lactase deficiency is due to a loss of the enzyme from what area of the body?
2121
Brush border
2122
2123
2124
2125
Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His
2126
Q1064:Which two essential amino acids are increased in histones which bind negatively charged DNA?
2127
Arg; Lys
2128
2129
2130
2131
Arginine
2132
2133
2134
2135
2136
2137
Ornithine; Carbamoyl; Citruline; Aspartate; Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily Careless; Crappers Are Also Frivolous About Urination
2138
2139
Tyrosine;Dopamine;NE ;EPI
2140
2141
Niacin (NAD/NADP);Serotonin;Melatonin
2142
2143
Histamine
2144
2145
Heme
2146
2147
Creatine;Urea;NO
2148
2149
GABA
2150
2151
2152
2153
2154
2155
homogentisic acid oxidase (alkapton bodies cause urine to turn black when standing)
2156
2157
2158
2159
locus heterozygosity
2160
2161
AR
2162
2163
1. cystathionine synthase deficiency;2. decreased affinity of cystathionine synthase for pyridoxal phosphate;3. methionine synthase deficiency
2164
2165
the renal tubular amino acid transporter for cystine; ornithine; lysine; and arginine
2166
2167
2168
2169
2170
2171
a-ketoacid dehydrogenase
2172
2173
2174
Q1088:What is codominance?
2175
2176
2177
2178
2179
Not all individuals with a mutant genotype show the mutant phenotype
2180
Q1091:What is pleiotropy?
2181
2182
Q1092:What is imprinting?
2183
At a single locus; only one allele is active; the other is inactive (methylation).Differneces in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. Prader-Willi = paternal)
2184
Q1093:What is anticipation?
2185
Severity of disease worsens or age of onset of disease is earlier in succeeding generations (e.g. Huntington's)
2186
2187
If a patient inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before the cancer develops (NOT true of oncogenes)
2188
2189
exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
2190
2191
tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population; not in a family; and often varies in different populations
2192
Q1097:What is mosacism?
2193
when cells in the body have different genetic makeup (e.g.lyonization--random X inactivation in females)
2194
2195
2196
2197
p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is the prevalence of heterozygotes
2198
2199
p+q=1
2200
2201
1. no mutation; 2. no selection for any of the genotypes at a locus; 3. Random mating; 4. no migration into or out of a population
2202
2203
2204
2205
many generations affected; both male and female; often pleiotropic; present after puberty
2206
2207
25% of offspring from 2 carrier parents affected; due to enzyme deficiencies; usually only seen in 1 generation; more severe than AD; presents in childhood
2208
2209
Sons of heterozygous mothers have a 50% chance; commonly more severe in males but heterozygous females may be affected
2210
2211
transmitted through both parents; ALL female offspring of an affected father will be diseased (either male of female from mother); hypophosphatemic rickets
2212
2213
transmitted only through mother; all offspring of affected mother show disease; Leber's hereditary optic neuropathy
2214
2215
AD; always bilateral; mutation in APKD1 (Chr 16); berry aneurysms; mitral valve prolapse (juvie form is recessive)
2216
2217
AD; elevated LDL from a defective or absent LDL receptor; severe atherosclerosis disease at young age; tendon xanthomas (achilles); may have MI before age 20
2218
2219
AD; fibrilin gene mutation = connective tissue disorders; tall; aortic incomptenece and dissecting aortic aneurysms; floppy mitral valve
2220
2221
AD long arm of chr. 17; caf-au-lait spots; neural tumors; Lisch nodules (pigmented iris hamartomas); pheo's
2222
2223
AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene on chr 22 (type 2 = 22)
2224
2225
AD; facial lesions (adenoma sebaceum); hypopigmented "ash leaf spots" on skin; cardiac rhabdomyomas; incomplete penetrance/variable presentation
2226
2227
AD; hemangioblastomas of the retina/cerebellum/medulla; 50% develop multiple bilateral renal cell carcinomas; deletion of VHL gene on Chr 3 (three words for Chr 3)
2228
2229
AD; triplet repeat disorder on chr 4; depression; progressive dementia; choreiform movements; caudate atrophy; decreased levels of GABA and ACh in brain
2230
2231
AD; progresses to colon cancer unless resected; Deletion on chr. 5 (5 letters in polyp)
2232
2233
2234
2235
AD; cell-signalling defect of fibroblast growth factor (FGF) receptor 3; dwarfism (short limbs but head and truck are normal size); associated with advanced PATERNAL age
2236
2237
CFTR on chromosome 7
2238
2239
recurrent pulmonary infections; infertility in males (absent vas deferens); fat soluble vitamin deficiencies
2240
2241
2242
2243
Bruton's agammaglobulinemia; Fragile X; G6PD deficiency; ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and B; Fabry's dz; Hunter's syndrome
2244
2245
2246
2247
Gower's maneuver
2248
2249
Becker's
2250
Q1126:What is the 2nd most common cause of genetic mental retardation after Down's?
2251
Fragile X syndrome
2252
2253
macro-orchidism; long face with a large jaw; large everted ears; autism
2254
2255
2256
2257
2258
Q1130:What are the three autosomal trisomies and which chr's are affected?
2259
2260
2261
2262
2263
early-onset Alzheimer's
2264
Q1133:95% of Down's cases are due to what problem in meiosis? What is the associated parental "problem"?
2265
2266
2267
2268
2269
cleft papate; abnormal facies; thymic aplasia (t-cell deficiency); cardiac defects; hypocalcemia 2' to parathyroid aplasia; variable presentation as DiGeorge
2270
Q1136:When are the risks for fetal alcohol syndrome the greatest?
2271
3-8 weeks
2272
2273
2274
2275
III--5'->3' synthesis; 3'->5' exonuclease (proofread); I-degrades RNA primer (5'->3' exonuclease); fills in gap w/DNA
2276
2277
nuc--releases damaged OLIGOnucleotides (ex; in XP); base-specific glycosylases recognize and remove damaged BASES
2278
Q1140:alpha-amanitin
2279
poison from a mushroom; inhibits euk RNA pol II (mRNA); initially GI problems; rapidly results in death
2280
2281
2282
2283
2284
2285
operator
2286
2287
2288
Q1145:I cell dz
2289
failure of addition of mannose-6-phosphate to lysosome enzymes-->enzymes secreted outside cell; get coarse facial features; clouded corneas; restricted jnt movement; high plasma lysosomal enzymes; often fatal in childhood
2290
2291
retrograde; Golgi->ER
2292
2293
anterograde; RER->cis-Golgi
2294
2295
2296
2297
reticulin; in skin; blood vessels; uterus; fetal tissue; granulation tissue. Most common type of Ehrlos-Danlers involves this
2298
2299
2300
2301
1. synthesis of preprocollagen (rER); 2. hydroxylation (ER; requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as procollagen); 5. proteolytic processing (tropocollagen); 6. crosslinking (lysyl oxidase; collagen fibrils)
2302
2303
type II
2304
Q1153:vimentin stains?
2305
connective tissue
2306
Q1154:desmin stains?
2307
muscle
2308
Q1155:cytokeratin stains?
2309
epithelial cells
2310
Q1156:all enzymes except 1 of TCA are WHERE and where/what is the exception?
2311
all but succinate DH are in mitochondrial MATRIX; succinate DH is in inner mitochondrial membrane (along with ETC)
2312
2313
pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP>F6P); G6Pase (er; G6P->glucose)
2314
2315
2316
2317
lysine; leucine
2318
2319
2320
Q1161:what is rotenone
2321
fish poison that complexes with NADH DH (complex I of ETC); NADH accumulates; but can still get electrons into ETC from FADH2
2322
Q1162:what is antimycin A?
2323
abx that blocks passage of electrons through cytochrome b-c1 complex (ETC)
2324
2325
combines with cytochrome oxidase and blocks electrons->O2 in ETC; (CO does this also)
2326
2327
2328
2329
glucose phosphate DH
2330
2331
2332
Q1167:essential fructosuria
2333
defect in fructokinase (F->F1P); however; this is benign and asymptomatic; only get fructose in blood and urine
2334
Q1168:aldolase B deficiency--> ?
2335
(AR) fructose intolerance; F1P accumulates and decreases available phosphate. This inhibits glycogenolysis; gluconeogenesis; get hypoglycemia; jaundice; cirrhosis; vomiting
2336
2337
2338
2339
2340
2341
2342
2343
2344
2345
2346
2347
2348
2349
2350
2351
2352
2353
2354
2355
GLUT 1
2356
Q1179:GLUT 2 is where?
2357
2358
2359
a)ferrochelatase; ALA dehydrase; b) porphobilinogen deaminase (formerly known as: uroporphyrinogen I synthase); c) uroporphyrinogen decarboxylase
2360
Q1181:Full term neonate of uneventful delivery becomes mentally retarded and hyperactive and has musty odor;WHat is the diagnosis
2361
PKU
2362
Q1182:Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic;WHat is the mechanism
2363
NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
2364
Q1183:2 year old girl has increase in abdominal girth; failure to thrive and skin and hair depigmentation - what is the diagnosis
2365
Kwashiorkor
2366
Q1184:Alcoholic develops rash; diarrhea and altered mental status;What is the vitamin defficiency
2367
B3 (pellagra)
2368
Q1185:20 year old male presents with idiopathic hyperbillirubinemia;WHat is the most common cause
2369
Gilberts syndrome
2370
Q1186:51 year old man has black spots on his sclera and has noted that urine turns black when he is standing
2371
Alkaptonuria
2372
Q1187:25 year old complains of chest pains and has xanthoma of Achilles tendon;What is his disease and where is the defect
2373
2374
Q1188:Condensed by negatively charged DNA looped twice around positively charged H2a; H2b; H3 and H4 histones (nucleosome bead)
2375
Chromatin
2376
2377
H1 histone
2378
2379
Heterochromatin
2380
2381
Euchromatin
2382
Q1192:Name purines
2383
A; G;PURe As Gold
2384
Q1193:Name pyrimidines
2385
C; T; U;CUT Pye
2386
2387
Purines
2388
2389
Pyrimidines
2390
2391
guanine
2392
2393
thymine
2394
2395
Uracyl
2396
2397
2398
2399
2400
2401
Increases
2402
2403
2404
2405
TransItion (identical)
2406
2407
2408
2409
Unambiguous (each codon for only one amino acid);Degenerate (more then one codon can code for same amino acid);COmmaless; nonoverlapping;Universal
2410
Q1206:Name type of mutation - same amino acid; often base change in 3d position of codon tRNA wobble)
2411
Silent mutation
2412
Q1207:Name type of mutation - changed amino acid (conservative - new amino acid is similar in chemical structure)
2413
Missence mutation
2414
2415
Nonsense mutation
2416
Q1209:Name type of mutation - change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
2417
Frameshift mutation
2418
2419
Single origin of replication - continuous DNA synthesis on leading strand and discontinuous (okazaki fragments) on lagging strand
2420
2421
Primase makes RNA PRIMER on which DNA polymerase III can initiate replication
2422
Q1212:Elongates the chain by adding deoxynucleotides to the 3 end until it reaches primer of preceding fragment
2423
2424
2425
2426
2427
2428
2429
DNA topoisomerases
2430
2431
Xeroderma pigmentosum (skin sensitivity to UV light);Ataxia-telangiectasia (x rays);Blooms syndrome (radiation);Fanconis anemia (cross linking agents)
2432
Q1217:Defective excision repair such as uvr ABC endonuclease. Results in inability to repair thymidine dimers; which form in DNA when exposed to UV light;Associated with dry skin and with melanoma and other cancers;Inheritance pattern
2433
2434
2435
5'-->3'
2436
Q1219:Chromatin Structure
2437
negatively charged DNA wrapped around a histone (H2A; H2B; H3; H4); connected by H1;Condensed = hetero-; inactive;Less condensed = eu-; active
2438
Q1220:Nucleotides
2439
Purines (A; G) large rings;Pyrimidines (C; U; T) small rings;PURe As Gold;CUT the PY (pie)
2440
2441
alpha - replicates lagging strand; synthesizes RNA primer;beta - repairs DNA;gamma - replicates mitochondrial DNA;delta - replicates leading strand;epsilon - repairs DNA
2442
2443
endonuclease cleaves strand upstream;exonuclease clease strand downstream;DNA polymerase Beta fills gap
2444
2445
Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (Xrays) ;Bloom's syndrome (radiation);Fanconi's anemia (crosslinking agents)
2446
2447
2448
2449
2450
2451
Promoter - where RNA polymerase/transcription factors bind upstream;TATA (25 bp upstream);CAAT (70 bp upstream);Enchancer - where transcription factors bind to increase expression
2452
Q1227:RNA processing
2453
1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3' Polyadenylation;stability; mediates nuclear export;3. Splicing out introns;for fun?
2454
Q1228:tRNA Structure
2455
75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3' CCA sequence;chemically modified bases
2456
Q1229:tRNA charging
2457
2458
Q1230:tRNA wobble
2459
allows many codons to match one tRNA with only the first two bases of it's anticodon
2460
Q1231:PCR
2461
ligate/denature DNA;add premade specific probes;add heatstable DNA polymerase;repeat until DNA sequence is amplified
2462
2463
Southern - DNA probe to find DNA;Northern - DNA probe to find RNA;Western - Ab probe to find protein;Southwestern - DNA probe for TFs
2464
Q1233:ELISA
2465
2466
Q1234:Inheritance Modes
2467
Auto Dom - structural genes;M/F affected equally;presents after puberty;Auto Rec - 25% offspring of carriers;enzyme deficiencies;present in childhood;X-link Rec - 50% sons of hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of sick mom;hypophosphatemic rickets;Mitochondrial transmitted by mom;all kids may show dz;leber's hereditary optic neuropathy;mitchondrial myopathies
2468
Q1235:Variable expression
2469
2470
Q1236:Incomplete penetrance
2471
2472
Q1237:Pleiotropy
2473
2474
Q1238:Imprinting
2475
Differences in phenotype depend on whether the mutation is of maternal or paternal origin;Angelmans - maternal transmission;Prader-Willi - paternal transmission
2476
Q1239:Anticipation
2477
2478
Q1240:Loss of heterozygosity
2479
if a pt inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before cancer develops (not true of oncogenes)
2480
2481
exerts a dominant effect because the body cannot produce enough of the normal gene product with only one functioning allele or presence of the altered gene product inhibits the normal product
2482
Q1242:Linkage disequilibrium
2483
two alleles at linked loci occur together more often than probability would suggest.
2484
2485
2486
Q1244:Down Syndrome
2487
mental and growth retardation;trisomy 21;tested with karyotyping;1:800;increased risk with maternal age;decreased AFP in amniotic fluid;polyhydramnios
2488
Q1245:Fragile X
2489
2490
2491
recurrent painful crises;autosplenectomy -> imm def;autosomal recessive;1 missense mutation in beta globin;1:400 Af-Am
2492
Q1247:Cystic fibrosis
2493
recurrent pulmonary infections;exocrine pancreas insufficiency;infertility;autosomal recessive;mutated CFTR (Cl- channel);1/2000 whites
2494
Q1248:Neurofibromatosis
2495
2496
2497
muscular weakness and degeneration;X-linked recessive;dystrophin gene deletion;Dx DNA test;pseudohypertrophy of calf
2498
Q1250:Osteogenesis Imperfecta
2499
increased bone fx;blue sclera - translucent CT over choroid;many mutations - abn collagen synth;1:10000
2500
Q1251:Phenylketonuria
2501
autosomal recessive;phenylalanine hydroxylase deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine becomes essential;mental retardation;fair skin (decreased melanin);eczema;musty body odor;decrease phenylalanine in diet;increase tyrosine in diet
2502
Q1252:Fabry's disease
2503
X-linked recessive;alpha galactosidase deficiency;ceramide trihexoside accumulation;renal failure;peripheral neuropathy hands/feet;CV disease
2504
Q1253:Krabbe's disease
2505
2506
Q1254:Gaucher's disease
2507
2508
Q1255:Niemann-Pick disease
2509
Autosomal recessive;sphingomyelinase def;sphingomyelin accum in reticuloendothelial cells/parenchyma;leading to organomegaly and progressive neurodegeneration;cherry red spot on macula;No Man PICKs his nose w/ a SPHINGer
2510
Q1256:Tay-Sachs disease
2511
Autosomal recessive;Absence of hexosaminidase A;GM2 ganglioside accumulation;Askenazi Jews (carriers = 1/30);death by age 3;cherry red spot on macula
2512
Q1257:Metachromatic Leukodystrophy
2513
Autosomal recessive;arylsulfatase A deficiency;demyelination with w/ ataxia; dementia;Cerebroside sulfate in brain; liver; kidney; PNS
2514
Q1258:Hurler's syndrome
2515
Autosomal recessive;alpha-L-iduronidase deficiency;corneal clouding;gargoylism;developmental delay;Hurlers (shot put) do more damage than hunters (arrows)
2516
Q1259:Hunter's syndrome
2517
X-linked recessive;iduronate sulfatase deficiency;mild form of Hurler's (mild retardation);with aggressive behavior;no corneal clouding
2518
2519
noncompetitive inhibitors change the Vmax (the y-intercept will increase);competitive inhibitors change the Km (the xintercept will increase)
2520
2521
2522
2523
hydoxylation of proline/lysine residues in RER requires Vit C;procollagen exocytosed into ECM;peptidases cleave terminal portion;self-assembly into collagen fibrils;crosslinked by lysyl oxydase
2524
Q1263:Ehlers-Danlos Syndrome
2525
2526
Q1264:S-adenosyl methionine
2527
2528
Q1265:NAD+/NADPH
2529
NAD+ catabolic electron acceptor;NADPH anabolic electron donor;product of HMP shunt;makes superoxide;regenerates GSH;p450
2530
2531
glu to G6P;G6P inhibits hexokinase;F6P to F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA inhib Pyr DeH
2532
2533
pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3 enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5 CoA;lipoic acid
2534
2535
buildup of pyruvate and alanine;reduced to lactate -> acidosis;seen in alcoholics in B1 deficiency;Rx: high fat/ketogenic nutrients
2536
Q1269:Cori cycle
2537
shuttles lactate from muscle to liver for regeneration to pyruvate;allows muscles to fxn anaerobically
2538
Q1270:TCA cycle
2539
12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are inhib by ATP/NADH;Cindy Is Kind So She's Friendly More Often
2540
2541
Pyr to oxaloacetate;Pyr carb req ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes in liver; kidney; intestine;hypogly with G6Pase def (von Gierke's)
2542
2543
rate limiting enzyme of HMP shunt;necessary for RBCs to produce NADPH for GSH regeneration;loss leads to hemolytic anemia;triggered w/ oxidizing agents: sulfas; primaquine; fava beans;Heinz bodies - Hb precipitates;prevalent in Af-Am;X-linked recessive
2544
Q1273:Fructose intolerance
2545
aldolase B deficiency;all phosphate accum in F1P;inhib glycogenolysis/gluconeogenesis;hypoglycemia; jaundice; cirrhosis;Rx: decrease fructose/sucrose
2546
Q1274:Galactose intolerance
2547
2548
2549
2550
Q1276:Urea Cycle
2551
2552
Q1277:Phenylalanine derivatives
2553
2554
Q1278:Tryptophan derivatives
2555
2556
Q1279:Histidine derivatives
2557
Histamine
2558
Q1280:Glycine derivatives
2559
Porphyrin/Heme
2560
Q1281:Arginine derivatives
2561
Creatine;Urea;Nitric Oxide
2562
Q1282:Homocytinuria
2563
defective cystathionine synthase or;defective methionine synthase;cysteine become essential;mental retardation;osteoporosis;lens subluxation;tall stature;kyphosis
2564
2565
alpha ketoacid dehydrogenase def blocked degradation of branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS defects; mental retardation; death
2566
2567
SCID;Excess dATP prevents production of other deoxyribose nucleotides via ribonucleotide reductase;-> lymphopenia
2568
Q1285:Lesch-Nyhan Syndrome
2569
X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT deficiency -> dec IMP/GMP prod -> inc uric acid excr;retardation;self-mutilation;aggression;hyperuricemia; gout; choreoathetosis
2570
2571
2572
2573
Glycogen storage disease type I;glucose-6Pase deficiency;(liver becomes like muscle);severe fasting hypoglycemia;glycogen accum in liver;Very
2574
Q1288:Pompe's disease
2575
Glycogen storage disease type II (trashes the pump);lysomal alpha-1;4-glucosidase def;cardiomegaly;early death;Poor
2576
Q1289:Cori's Disease
2577
2578
2579
McArdle's disease;muscle glycogen phosphorylase def;glycogen in musc -> painful cramps;myoglobinuria w/ strenuous exercise;Metabolism
2580
Q1291:Ketone bodies
2581
acetoacetate and betahydroxybutyrate;made in liver from HMG-CoA;excr in urine (test for acetoacetate);elevated in starvation/DM ketoacidosis;fruity breath;converted to 2 AcetylCoA in brain
2582
Q1292:Insulin
2583
from pancreatic beta cells;inc glu uptake in musc/liver/fat;GLUT2 R in beta cells;GLUT4 in periphery;inhib glucagon from alpha cells;C-peptide cleaved > activation
2584
2585
Glucagon phosphorylates;turns OFF glycogen synthase;turns ON glycogen phosphorylase;Insulin dephosphorylates;turns ON glycagen synthase;turns OFF glycagen phosphorylase
2586
2587
HMG-CoA reductase is the rate limiting enzyme in synthesis;inhib by Lovastatin ;Esterification via LCAT
2588
Q1295:Chylomicrons
2589
dietary TGs to peripheral tissues; dietary chol to liver;travel in lymphatics to thoracic duct to blood;excess -> xanthomas;Apo B48 mediates excretion;Apo CII for lipoprotein lipase;Apo E mediates liver uptake
2590
Q1296:VLDL
2591
hepatic TGs to periphery;excess causes pancreatitis;apo B100 mediates secr;apo CII for lipoportein lipase;apo E mediates liver uptake
2592
Q1297:LDL
2593
produced via VLDL modification;hepatic cholesterol to periphery;uptake via R-med endocytosis (Apo B100);excess causes ATH; xanthomas;Bad for you
2594
Q1298:HDL
2595
periphery cholesterol to liver;repository for Apo C/E;Apo A1 for LCAT & chol-esters;Good for you
2596
Q1299:Familial Hypercholesterolemia
2597
2598
Q1300:Familial Hypertriglyceridemia
2599
2600
Q1301:Heme Synthesis
2601
Rate limiting step: glycine + succinyl CoA -> ALA via ALA synthase;occurs w/in mitochondria;inhibition -> porphyrias;Pb inhib other enzymes -> microcytic/hypochromic anemia and porphyria
2602
Q1302:Heme catabolism
2603
scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin excr in bile;converted to urobilinogen;excreted as urobilin in urine
2604
Q1303:Methemoglobinemia
2605
2606
Q1304:Hb structure/affinity
2607
Cl; H; CO2; DPG; heat favor the T (taut) form over R (relaxed);causes decreased O2 affinity
2608
Q1305:Vitamin A
2609
2610
Q1306:Vitamin B1
2611
2612
Q1307:Vitamin B2
2613
2614
Q1308:Vitamin B3
2615
Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused by carcinoid syndrome; INH; Hartnup Dz;Diarrhea; Dermatitis; Dememtia
2616
Q1309:Vitamin B5
2617
Pantothenate -> Coenzyme A;FA synth; Kreb's Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal insufficiency
2618
Q1310:Vitamin B6
2619
2620
Q1311:Biotin
2621
cofactor for carboxylation;1. pyruvate -> oxaloacetate;2. acetyl CoA -> malonyl CoA;3. proprionyl CoA -> methylmalonyl CoA
2622
Q1312:Folic Acid
2623
Coenzyme for 1-C transfer;methylation rxns for nitrogenous bases;most common vitamin deficiency in US: macrocytic; megaloblastic anemia
2624
Q1313:Vitamin B12
2625
Cobalamin;Cofactor for homocyteine methylation & methylmalyonyl handling;Stored in liver;deficiency caused by: malabsorption (sprue; enteritis; diphyllobothrium latum); pernicious anemia; ileectomy;Dx: Schilling test
2626
Q1314:Vitamin C
2627
Ascorbic Acid;cofactor for hydroxylation of proline/lysine in collagen;facilitates Fe adsorption by keeping it reduced;Deficiency: scurvy = swollen gums; bruising; poor healing
2628
Q1315:Vitamin D
2629
D2 absorbed from gut;D3 formed in skin;25OH D3 storage form;1;25OH D3 active form;increases Ca/PO4 absorption;deficiency: rickets; osteomalacia; hypoCa tetany;excess: hyperCa; stupor;caused by sarcoidosis mphages producing active D3
2630
Q1316:Vitamin E
2631
2632
Q1317:Vitamin K
2633
synthesis of clotting factors II; VII; IX; X and Proteins C/S;synth'd by intestinal flora;deficiency seen in broadspectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal hemorrhage
2634
Q1318:Ethanol Metabolism
2635
alcohol and acetaldehyde dehydrogenase produce NADH and acetate;excess NADH shunts pyruvate away from gluconeogenesis to lactate;leads to hypoglycemia and FA synth (fatty liver)
2636
2637
2638
2639
Osteoblast
2640
2641
2642
2643
2644
2645
2646
2647
2648
2649
no alpha-1-hydroxylase
2650
2651
2652
2653
2654
2655
Missing alpah-1-hydroxylase
2656
2657
Bad receptors
2658
2659
- Prevent lipid peroxidation of cell membranes;- protect membrane from breaking down by phospholipid A;neutralizes oxidis LDL (makes it less injurious); i.e. cardioprotective
2660
2661
2662
2663
2664
2665
Yes! Problems neurologicly since they disrupt the membranes in the brain. Spinalcerebellar Dz
2666
2667
Vitamin E excess!
2668
2669
epoxide reductase ;k1 gamma carboxylates activates factors II; VII; IX; X;hydroxylates proline and lisine;activates them so they are fucntional
2670
2671
2672
Q1337:Vitamine K deficiency?
2673
2674
2675
2676
Q1339:Symptoms of hypocortisolism?
2677
2678
2679
Car accident
2680
Q1341:Where is it made?
2681
2682
2683
2684
2685
2686
2687
Osmotic Diuresis
2688
2689
2690
2691
Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA ---> Acetyl CoA ----> Citric Acid Cycle
2692
2693
2694
2695
Alanine
2696
Q1349:How long does glycogen storages last when you are fasting?
2697
24 hours
2698
2699
2700
Q1351:How many days does it take for fat to become the predominant source of glucose?
2701
2702
Q1352:When is the highest fat source for glucose? Week? When are ketones at the highest level?
2703
2704
2705
2706
Q1354:G6PDH;cofactor
2707
2708
2709
2710
Q1356:G6PDH;induced by
2711
insulin
2712
Q1357:G6PDH;activated by
2713
2714
Q1358:G6PDH deficiency;inheritence
2715
XLR
2716
Q1359:G6PDH;major function
2717
Generate NADPH for anabolic purposes (EG: FA synthesis); antimicrobial killing and protection of cells from reactive oxygen species
2718
2719
NADPH reduces oxidized Glutathionine (G-S-S-G) back to its reduced form (2 GSH). GSH allows the enzyme Glutathionine peroxidase to breakdown H202
2720
2721
2722
2723
2724
2725
NAPDH oxidase generates bactericidal superoxide. NADPH deficiency inhibits this function.
2726
2727
2728
2729
ER
2730
2731
insulin
2732
2733
-glucagon;-statins
2734
2735
2736
2737
2738
Q1370:HMG CoA reductase;How does inhibition by statin drugs decrease cholesterol levels?
2739
Inhibition by statins both decreases de novo synthesis and enhances hepatic clearence of serum cholesterol by increased LDLR expression
2740
2741
competitive
2742
Q1372:DHFR;reaction it catalyzes
2743
Folate---->DHF--->THF
2744
Q1373:DHFR;eukaryotic inhibitior
2745
methotrexate
2746
2747
-Trimethoprim;-pyrimethamine
2748
2749
A block of DHFR function ultimately prevent synthesis of thymidylate (thymidylate synthase is folate dependent)
2750
2751
OTCD has hyperammonia and low BUN;Orotic aciduria has a normal BUN
2752
2753
2754
2755
2756
2757
UDP-Glucuronyl transferase is the last enzyme expressed in infants. Thus; neonates have increased susceptibility to jaundice and kernicterus
2758
Q1380:Dubin-Johnson syndrome;characterized by
2759
2760
Q1381:Crigler-Najjar syndrome;define
2761
2762
Q1382:Gilbert Syndrome;define
2763
2764
Q1383:gamma-glutamyl carboxylase;rxn:
2765
2766
2767
gamma carboxylation of factors II; VII; IX; X and Protein C&S generates Ca binding sites.
2768
2769
vit K
2770
Q1386:gamma-glutamyl carboxylase;inhibited by
2771
2772
2773
NO; warfarin's effect (vit K reductase inhibition) prvents in vivo clotting by blocking clotting factor synthesis but has no effect on existant factors.
2774
2775
2776
Q1389:Homocysteine methyltranferase;rxn:
2777
2778
Q1390:Homocysteine methyltranferase;cofactors:
2779
2780
2781
2782
Q1392:mild homocysteinuria;symptoms
2783
-DVT;-stroke;-atherosclerosis
2784
2785
2786
2787
2788
Q1395:Methylmalonyl-CoA mutase;rxn:
2789
2790
Q1396:Methylmalonyl-CoA mutase;cofactor:
2791
adeonsylcobalamin (B12)
2792
2793
2794
Q1398:Lesch-Nyhan Syndrome;inheritence:
2795
XLR
2796
2797
HGPRT deficiency
2798
Q1400:Lesch-Nyhan Syndrome;symptoms:
2799
2800
Q1401:6-Mercaptopurine is activated by
2801
HGPRT
2802
Q1402:Lesch-Nyhan Syndrome;pathophysiology
2803
Loss of the salvage pathways results in shunting of Hypoxanthine and guanine to the excretion pathway;Furthermore; loss of feedback inhibition of PRPP admidotransferase results in additional purine synthesis;Thus; HGPRT deficiency leads to crippling excesses of urate
2804
Q1403:HGRPT;rxn:
2805
2806
2807
TPP;Lipoic acid;CoA;FAD;NAD
2808
2809
Valine;Leucine;Isoleucine
2810
2811
2812
2813
2814
2815
2816
Q1409:Pyruvate DH;cofactors
2817
TPP;Lipoic Acid;CoA;FAD;NAD
2818
Q1410:Pyruvate DH;rxn:
2819
2820
2821
2822
Q1412:Pyruvate DH;inhibited by
2823
acetyl-CoA
2824
Q1413:PKU;genetic causes
2825
2826
2827
PKU
2828
Q1415:PKU;untreated symptoms
2829
-pale skin and white hair;-mental retardation;-loss of motor control;-musty; mousy odor
2830
Q1416:PKU;-pathophysiology
2831
2832
Q1417:Phenylalanine hydroxylase;rxn
2833
2834
Q1418:MCAD;function
2835
2836
Q1419:MCAD deficiency;symptoms
2837
2838
2839
MCAD deficiency
2840
2841
#NAME?
2842
Q1422:Topoisomerase II;function
2843
2844
2845
etoposide;teniposide
2846
Q1424:Excision endonuclease;function
2847
2848
2849
excision endonuclease
2850
Q1426:Xerderma pigmentosum;symptoms
2851
2852
2853
- urea cycle defect;- condition: type I hyperammonemia;metabolites accumulated: ammonia; glutamine; alanine
2854
2855
- urea cycle defect;- condition: type II hyperammonemia;metabolites accumulated: ammonia; glutamine; orotate
2856
2857
2858
2859
2860
Q1431:Arginase deficiency
2861
2862
2863
- AR defect in branched-chain ketoacid dehydrogenase;- high plasma & urine levels of branched-chain AA (leucine; valine; isoleucine) and their corresponding alpha-keto acids and alpha-hydroxyacids;- urine odor of maple syrup or burnt sugar;- brain damage
2864
Q1433:strictly ketogenic AA
2865
2866
2867
2868
Q1435:strictly glucogenic AA
2869
all others
2870
2871
2872
2873
2874
2875
leucine; isoleucine
2876
2877
2878
2879
asparagine; aspartate
2880
2881
tyrosine; phenylalanine
2882
2883
2884
2885
2886
Q1444:propionic aciduria
2887
2/2 deficiency of biotin; propionyl-CoA carboxylase; holocarboxylase synthase; or the enzyme that covalentloy attaches biotin to all carboxylases (in last case; additional organic acids accumulate)
2888
Q1445:methylmalonic aciduria
2889
2/2 deficiency in vitamin B12 or defect in methylmalonylCoA mutase;some pts respond well to megadose of vit B12
2890
Q1446:pyridoxal phosphate
2891
2892
Q1447:CPS-1 activation
2893
high protein diet --> glutamate accumulation --> increase in NAG --> CPS-1 activation
2894
2895
2896
2897
transferred to pyruvate to form alanine --> dumped into circulation --> picked up by liver; where it is converted back to pyruvate
2898
2899
gluconeogenesis
2900
2901
urea synthesis
2902
Q1452:phenylketonuria (PKU)
2903
deficiency in phenylalanine hydroxylase or dihydrobiopterin reductase;buildup of phenylalanine; phenylpyruvate; phenylacetate; phenyllactate in blood and urine;**tyrosine becomes an essential AA**
2904
Q1453:PKU Sx
2905
2906
2907
2908
Q1455:PKU Tx
2909
2910
Q1456:NutraSweet
2911
2912
2913
phenylalanine
2914
2915
methionine
2916
2917
2918
2919
2920
2921
2922
Q1462:homocystinuria
2923
large amts. homocystine in urine;acquired or inherited;most often seen in children with FTT; lens displacement
2924
Q1463:causes of homocystinuria
2925
deficiency in pyridoxine; folate; or vitamin B12;OR;inherited defect in either cystathionine synthase or methionine synthase;all above result in accumulation of homocysteine; which is readily oxidized to its disulfide form; homocystine
2926
Q1464:homocystine
2927
2928
Q1465:cysthathionuria
2929
2/2 deficiency in pyridoxine or from genetic defect in cystathionase;large amts. cystathionine found in urine + blood
2930
2931
2932
Q1467:Parkinson prevalence
2933
2934
Q1468:Parkinson Sx
2935
2936
Q1469:Parkinson Tx
2937
L-dopa + carbidopa
2938
Q1470:Carbidopa
2939
decreases extra-CNS effects of L-dopa;selectively inhibits aromatic acid decarboxylase outside CNS;does not cross BBB so does not inhibit conversion of L-dopa --> dopamine
2940
Q1471:carcinoid tumors
2941
2942
2943
2944
Q1473:porphyria
2945
any abnormality in pathway of heme synthesis;block early in pathway: intermediates buildup & are excreted in urine;block late in pathway: excreted in urine + feces; accumulate in skin
2946
2947
lead poisoning can be considered acquired porphyria b/c inhibits ALA DEHYDRATASE and HEME SYNTHASE (FERROCHELATASE)
2948
2949
2950
Q1476:anabolism
2951
2952
2953
Glycine
2954
2955
Alanine
2956
2957
2958
2959
Proline
2960
2961
Phenylalanine
2962
2963
2964
2965
2966
2967
Niacin
2968
2969
Pellagra
2970
2971
Diarrhea;Dermatitis;Dementia
2972
2973
HAL;Histidine;Alaline;Lysine
2974
2975
2976
2977
Serine;Threonine
2978
Q1490:Valine is a branched a.a. what happens glutamate is changed to val?;glutamate ----> valine
2979
2980
2981
2982
2983
Because it produces S-thiol and is the Tx for Acetaminophen Toxicity;NO+ guanylate cyclase increasing cGMP
2984
2985
2986
2987
2988
2989
NH3 donor;Amonia
2990
2991
Arginine
2992
2993
2994
2995
2996
2997
Glucose-6-phosphatase
2998
2999
Lysosomal alpha-1;4-glucosidase
3000
3001
3002
3003
3004
3005
3006
3007
3008
3009
Severe fasting hypoglycemia;Increased glycogen in liver;Thin extremities; chubby facies;Fatty liver;Renal disease;Growth retardation; delayed puberty
3010
3011
3012
3013
Hypoglycemia;Failure to thrive;Hepatomegaly
3014
3015
Increased glycogen in muscle (can't break it down);Paimful cramps;No rise in lactate w/ exercise
3016
3017
Like McArdle's;Nausea and vomiting;Acute exacerbation after high-carb meal;Hyperuricemia and hyperbilirubinemia
3018
3019
3020
3021
3022
Q1512:What is/are the MAJOR REGULATORY ENZYME of the citric acid cycle?
3023
Citrate synthase
3024
3025
Phosphofructokinase-1
3026
3027
Pyruvate dehydrogenase
3028
3029
3030
3031
Glycogen synthase
3032
3033
Glycogen phosphorylase
3034
Q1518:What is/are the MAJOR REGULATORY ENZYME of the pentose phosphate pathway?
3035
Glucose-6-phosphate dehydrogenase
3036
3037
HMG-CoA reductase
3038
3039
Acetyl-CoA carboxylase
3040
3041
3042
3043
CoA;NAD;ADP;Pyruvate
3044
3045
Acetyl-CoA
3046
3047
cAMP
3048
3049
cAMP;Ca2+ (muscle)
3050
3051
NADP+
3052
3053
Citrate
3054
3055
ATP;Long-chain acyl-CoA
3056
3057
3058
3059
3060
3061
ADP
3062
3063
AMP;Fructose-2;6-bisphosphatase
3064
3065
3066
3067
NADPH
3068
3069
Long-chain acyl-CoA;cAMP
3070
3071
Cholesterol;cAMP
3072
3073
3074
3075
Fructose-1;6-bisphosphatase;Glycogen phosphorylase
3076
3077
hyperchylomicronemia
3078
3079
hypercholesterolemia
3080
3081
combined hyperlipidemia
3082
3083
dysbetalipoproteinemia
3084
3085
hypertriglyceridemia
3086
3087
mixed hypertriglyceridemia
3088
3089
autosomal dominant
3090
3091
chylomicrons
3092
3093
LDL
3094
3095
LDL; VDL
3096
3097
IDL; VLDL
3098
3099
VLDL
3100
3101
VLDL; chylomicrons
3102
3103
TG; cholesterol
3104
3105
cholesterol
3106
3107
TG; cholesterol
3108
3109
TG; cholesterol
3110
3111
TG
3112
3113
TG; cholesterol
3114
3115
Lipoprotein lipase deficiency; or altered apolipoprotein C-II (co-factor for lipoprotein lipase)
3116
3117
3118
3119
3120
3121
ALTERED apolipoprotein E
3122
3123
3124
3125
3126
3127
3128
Q1565:dry beriberi
3129
3130
Q1566:wet beriberi
3131
3132
Q1567:B2 deficiency
3133
3134
Q1568:B3 deficiency
3135
3136
Q1569:causes of pellegra
3137
hartnup disease (dec tryptophan absorbtion); malignant carcinoid syndrome (increased trypophan metabolism); and INH (decreased B6)
3138
Q1570:B5 deficiency
3139
3140
Q1571:B6 deficiency
3141
3142
Q1572:Sources of B6 deficiency
3143
3144
Q1573:B12 function
3145
3146
3147
malabsorption (sprue; enteritis; Diphyllobothrium latum); lack of IF (pernicious anemia); or absence of terminal ileum (chron's)
3148
3149
3150
Q1576:biotin deficiency
3151
dermatitis; enteritis
3152
3153
3154
Q1578:vit c deficiency
3155
3156
Q1579:vit c 3 mech
3157
hydroxylation of proline and lysine in collagen synthesis; facilitates iron absorption by keeping iron in Fe+2 reduced state; necessary as a cofactor for Dopamine to NE
3158
Q1580:Types of Vit D
3159
D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.
3160
Q1581:Vit D def
3161
Rickets kids (bending bones); osteomalacia in adults (soft bones) and hypocalcemic tenatny
3162
Q1582:Vit D function
3163
3164
Q1583:Vit D excess
3165
Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod macrophages convert Vit D into its active form.
3166
Q1584:Vit E def
3167
3168
Q1585:Vit E function
3169
3170
3171
neonatal hemorrhage with increased PT/aPTT but normal bleeding times - sterile intestine cant make Vit K
3172
3173
2;7;9;10
3174
Q1588:Vit K antagonist
3175
warfarin
3176
Q1589:Vit K function
3177
Catalyzes (gamma)-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.
3178
Q1590:Zinc deficiency
3179
Delayed wound healing; hypogonadism; dec adult hair; may predispose to alcoholic cirrhosis.
3180
Q1591:ETOH metabolism
3181
ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde dehydrogenase) to acetate. Both require NAD+ which goes to NADH
3182
3183
NAD+
3184
3185
zero order
3186
Q1594:Antabuse mech
3187
3188
Q1595:EtOH hypoglycemia
3189
ETOH metabolism increases NADH/NAD+ ratio in liver pyruvate to lactate and OAA to malate - inhibits gluconeogensis and thus hypoglycemia - fatty acid synthesis hepatocellular steatosis (hepatic fatty change)
3190
Q1596:Kwashiorkor
3191
3192
Q1597:Marasmus
3193
energy malnutrition - tissue and muscle wasting; loss of subcut fat; variable edema
3194
3195
glucose-6-phosphatase
3196
3197
Type I glycogen storage disease;Severe fasting hypoglycemia; increased glycogen in liver; increased blood lactate; hepatomegaly
3198
3199
3200
Q1601:Pompe's disease;Findings
3201
Type II glycogen storage disease;Cardiomegaly and systemic findings leading to early death;Pompe's trashes the Pump (heart; liver and muscle)
3202
3203
3204
Q1603:Cori's disease;Findings
3205
milder form of type I (Von Gierke's disease) with normal blood lactate levels;Gluconeogenesis is intact
3206
3207
3208
Q1605:McArdle's disease;Findings
3209
increased glycogen in muscle; but cannot break it down; leading to painful muscle cramps; myoglobinuria with strenuous exercise;McArdles: think MUSCLE
3210
3211
3212
3213
3214
Q1608:Fabry's disease;Findings
3215
3216
3217
beta-glucocerebrosidase!!;AR
3218
3219
Glucocerebroside
3220
Q1611:Gaucher's disease;Findings
3221
AR!!;hepatosplenomegaly; aseptic necrosis of the femur; bone crises; Gaucher's cells (macrophages that look like crumpled paper)
3222
3223
Sphingomyelinase
3224
3225
Sphingomyelin;AR
3226
Q1614:Niemann-Pick disease;Findings
3227
3228
3229
hexosaminidase
3230
3231
GM2 ganglioside;AR
3232
Q1617:Tay-Sachs disease;Findings
3233
progressive neurodegeneration; developmental delay; cherryred spot; lysosomes with onion skin!!
3234
3235
Galactocerebrosidase;AR
3236
3237
galactocerebroside
3238
Q1620:Krabbe's disease;Findings
3239
3240
3241
Arylsulfatase A
3242
3243
Cerebroside sulfate
3244
Q1623:Metachromic leukodystrophy;Findings
3245
3246
Q1624:Mucopolysaccharidoses
3247
3248
3249
alpha-L-iduronidase
3250
3251
3252
Q1627:Hurler's syndrome;Findings
3253
3254
3255
Mucopolysaccharidoses;iduronate sulfatase
3256
3257
3258
Q1630:Hunter's syndrome;Findings
3259
XR!!!;mild-Hurler's (developmental delay; gargoylism; airway obstruction; corneal clouding; hepatosplenomegaly) with aggressive behavior; NO corneal clouding
3260
3261
3262
3263
3264
3265
3266
3267
1. progressive neurodegeneration;2. developmental delay;3. cherry-red spot;4. lysozymes with onion skin
3268
3269
3270
3271
3272
3273
3274
3275
1. aggressive behavior;2. NO corneal clouding;3. Mild Hurler's;4. developmental delay;5. gargoylism;6. airway obstruction;7. hepatosplenomegaly
3276
3277
alpha-galactosidase A
3278
3279
beta-glucocerebrosidase
3280
3281
sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGER (SPHINGOMYELINASE)."
3282
3283
3284
3285
beta-galactosidase
3286
3287
Arylsulfatase A
3288
3289
alpha-L-iduronidase
3290
3291
Iduronate sulfatase
3292
3293
Ceramide trihexoside
3294
3295
glucocerebroside
3296
3297
Sphingomyelin
3298
3299
GM2 ganglioside
3300
3301
Galactocerebroside
3302
3303
Cerebroside sulfate
3304
3305
3306
3307
3308
3309
XLR
3310
3311
AR
3312
3313
AR
3314
3315
AR
3316
3317
AR
3318
3319
AR
3320
3321
AR
3322
3323
3324
3325
Fabry
3326
3327
Krabbe
3328
3329
Gaucher's Dz
3330
3331
Niemann-Pick Dz
3332
3333
3334
Q1668:What lysosomal Dz has accumulation of sulfatide in brain; kidney; liver and peripheral nerves?
3335
Metachromatic Leukodystrophy
3336
3337
alfa-galactosidase
3338
3339
ceramide trihexoside
3340
3341
X-linked
3342
3343
beta-galactosidase
3344
3345
beta-galactocerebroside
3346
3347
beta-galatosidase
3348
3349
beta-Glucocerebrosidase
3350
3351
glucocerebroside
3352
3353
Sphyngomyelinase
3354
3355
3356
3357
Hexosaminidase A
3358
3359
GM2 ganglioside
3360
3361
ArylSulfatase A
3362
3363
Sulfatide
3364
3365
alpha-L-iduronidase
3366
3367
3368
3369
iduronate sulfatase
3370
3371
Heparan Sulfate
3372
3373
3374
3375
Hurler's Sx
3376
3377
3378
3379
Hurler's Dz
3380
Q1691:What lysosomal dz has flaring of the distal femur? (Like Erlehnmeyer Flask)
3381
Gaucher's Dz
3382
3383
3384
3385
3386
3387
Membrane Receptor
3388
3389
3390
3391
Water Soluble
3392
3393
3394
3395
Leucine Zipper
3396
3397
3398
3399
3400
3401
3402
3403
3404
3405
3406
3407
cAMP pathway
3408
3409
3410
3411
PIP2;PIMP
3412
Q1707:Gq involves?
3413
3414
Q1708:What pathway does Atrial Natriuretic Factor (ANF) and Nitric Oxide (NO) use?
3415
cGMP
3416
3417
3418
3419
3420
3421
3422
3423
Protein Kinase C
3424
3425
Guanylate Cyclase
3426
3427
3428
3429
3430
3431
Protein Kinase G
3432
3433
3434
3435
Heme membrane
3436
3437
3438
3439
Two beta subunits;cross membrane;;2 membrane helix span;unlike ANF that has 1 membrane helix span
3440
3441
3442
3443
ANF;guanylate cyclase
3444
3445
INsulin;Tyrosine Kinase
3446
3447
Arginine
3448
3449
3450
3451
3452
3453
3454
3455
3456
3457
They increase PEPCK activity via response elements causing increase gluconeogenesis;increase in glucose---> DM;via Zinc Finger Proteins
3458
3459
3460
3461
Glycogen Phosphorylase is activated;degrages glycogen ---> glucose;increase the release of glucose;you are starving
3462
3463
3464
3465
Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -AcetylCoA)
3466
3467
Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; succinyl CoA)
3468
Q1735:Lesch-Nyhan syndrome
3469
HGPRT deficiency; can'd do purine salvage pathway; get uric aciduria. X-linked
3470
3471
Lack of mannose-6-phosphate transfer enzyme in golgi network means can't tag lysosomal enzymes for traffic to lysosome. Get secreted instead->coarse facies; early death
3472
3473
3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1 ATP;12 ATP/cycle via oxidative phosphorylation
3474
Q1738:Galactosemia
3475
Mild: Galactokinase deficiency->galactitol->childhood cataracts;Severe: Gal-1P uridyl transferase deficiency-> very high galactitol->liver damage; galactosemia; galacturia; cataracts; mental retardation ;Tx both w/glucose & lactose free diet
3476
Q1739:Fructosuria
3477
Fructokinase deficiency: benign fructosuria;Fructose intolerance: Lack of aldolase B to convert F1P to DHAP and glyceraldehyde->vomiting w/fructose load; mental retardation; etc.
3478
3479
3480
Q1741:Cori cycle
3481
1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate -> lactate to regenerate NAD+;3) Lactate to liver via blood;4) Lacate converted back to pyruvate and then to glucose by gluconeogenesis (6 ATP);5) Glucose sent back to muscle in blood
3482
3483
2 ATP;Reducing equivalents in NADH used to convert pyruvate to lactate via LDH to regenerate NAD+ to keep running glycolysis
3484
Q1743:Hexokinase vs glucokinase
3485
Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet cells; stim'd by insulin with lower Km but higher Vmax>glucose storage and
3486
Q1744:SAM
3487
S-adenosyl methionine;ATP+Met-->SAM->>Homocysteine;Need B12 & folate to regenerate methionine from ATP;Regeneration of methionine is how B12 converts dietary folate into form usable by purine synth and thymidylate synthase
3488
3489
3490
3491
3492
3493
3494
Q1748:Collagen types
3495
Type 1: classic (bone; skin);Type 2: cartilage/joints; hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type 4: basement membranes
3496
3497
NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- > Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+ + O2;H+ > ATP synthase > ATP
3498
Q1750:Oligomycin
3499
Inhibs ATP synthase > can't dissipate H+ gradient > ETC machinery gets backed up and stopped > ROS
3500
Q1751:2;4-dinitrophenol
3501
Allows H+ to leak out of mitochondrial matrix > uncouples electron transport from ATP synthesis gradient
3502
Q1752:Rotenone
3503
3504
Q1753:Cyanide
3505
3506
3507
3508
3509
Type I glycogen storage disease;Glucose-6-phosphatase deficiency;Liver can't export glucose;-Glycogen accum>hepatomegaly;-Hypoglycemia;-Lactic acidosis
3510
3511
3512
3513
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Lysine;Leucine
3514
3515
3516
3517
3518
Q1760:Urea cycle
3519
Ordinarily; Careless Crappers Are Also Frivolous About Urination;Ornithine;Carbamoyl phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar ginine;Urea
3520
Q1761:Black urine
3521
3522
3523
3524
Q1763:Cystinuria frequency
3525
4.902777778
3526
Q1764:Cystinuria defect
3527
COLA;Defect of AA transporter responsible for resorption of Cysteine; Ornithine; Lysine & Arginine from proximal tubule
3528
Q1765:Components of sucrose
3529
Fructose + glucose
3530
Q1766:Components of lactose
3531
GaLactose + glucose
3532
Q1767:Function of ApoA1
3533
3534
Q1768:Function of ApoB
3535
Binds LDLR
3536
Q1769:Function of ApoCII
3537
3538
Q1770:Function of ApoE
3539
3540
3541
Tay-Sachs disease; deficiency of hexosaminidase; so can't degrade GM2 ganglioside;Also Nieman Pick disease; deficiency of sphingomyelinase
3542
Q1772:fat soluble
3543
ADEK; absorption dependent on gut (ileum) and pancreas;toxicity more common because they accumulate in fat;malabsorption can cause def
3544
Q1773:water soluble
3545
B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily from body except B12 which is stored in liver
3546
Q1774:A def
3547
3548
3549
constituent of visual pigment; arthralgias; fatigue; headahce; skin change; sore throat; alopecia;found in leafy veggies
3550
3551
Beriberi and WK syndrome; seen in alcoholism and malnutrition;dry: polyneuritis;wet: high output CF
3552
Q1777:B1 function
3553
cofactor for oxidative decarboxy of a-ketoacids; cofactor for transketolase in HMP shunt
3554
3555
3556
Q1779:B2 function
3557
3558
Q1780:B3 def
3559
pellagra can be caused by Hartnup disease (decreased tryp absorption); malignant carcinoid syndrome and INH;sxs: diarrhea; dermatitis; dementia
3560
Q1781:B3 function
3561
3562
3563
3564
Q1783:B5 function
3565
3566
3567
macrocytic; megaloblastic anemia; neuro sxs (optic neuropathy; subacute combined degeneration; parasthesia); glossitis;def caused by: malabsorption; lack of IF; or absence of terminal ileum;Schilling test to detect def;abnormal myelin seen
3568
Q1785:B12 function
3569
cofactor for homocysteine methylation (transfers CH3 groups);stored in liver;very large reserve;synthesized by microorganisms
3570
3571
3572
3573
coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in Me reactions;important for synthesis of nitrogenous bases in DNA and RNA
3574
Q1788:Biotin def
3575
3576
Q1789:Biotin function
3577
3578
Q1790:Vit C def
3579
3580
Q1791:Vit C funciton
3581
necessary for hydroxylation of proline and lysine in collagen synthesis;facilitates iron absorption by keeping iron in Fe2 reduced state;necessary cofactor for DA-->NE
3582
Q1792:Vit D def
3583
rickets in children (bending bones); osteomalacia in adults (soft bones); hypocalcemic tetany
3584
Q1793:function vit D
3585
3586
Q1794:vit D excess
3587
hypercalcemia; loss of appetite; stupor;seen in sarcoidosisdisease where epithelial macrophages convert vit D into active form
3588
3589
25-OH D3
3590
3591
1; 25 (OH)2 D3
3592
3593
3594
3595
cholecalciferol D3
3596
Q1799:Vit E def
3597
3598
Q1800:vit E function
3599
3600
Q1801:vit K def
3601
neonatal hemorrhage with increased PT and PTT but normal bleeding time because neonates have sterile intestines and are unable to synthesize vit K
3602
Q1802:vit K function
3603
catalyzes gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting;synthesized by intestinal flora
3604
3605
3606
Q1804:Zinc deficiency
3607
delayed wound healing; hypogonadism; decreased adult hair; may predispose to alcoholic cirrhosis
3608
3609
ocular distrubances; nystagmus;gait ataxia;mental dysfunction (confusion; apathy; listlessness; disorientation);Korsakoff psychosis- retrograde recall; inability ot acquire new info
3610
3611
3612
3613
inhibits lipolysis in adipose-->less circulating free fatty acids --> less fatty acids to liver --> less VLDL --> less LDL
3614
3615
B6 and B3
3616
3617
3618
3619
3620
3621
3622
Q1812:antioxidant vitamins
3623
C; E and A
3624
3625
interacts with target cell DNA to selectively stimulate or repress gene stimulation
3626
3627
25; in liver
3628
3629
1; in kidney
3630
3631
3632
3633
embryonic; germ cells; stem cells except somatic cells;cancer/malignant cells have a high level of telomerase;They are linked with apoptosis
3634
3635
DNA gyrase
3636
3637
Cytosine
3638
3639
3640
3641
G1 Phase
3642
3643
G2 phase
3644
3645
Protein that prevents a cell w/ damaged DNA from entering the S phase
3646
3647
3648
3649
3650
3651
ataxia telangiectasia
3652
3653
3654
3655
3656
3657
Breast cancer
3658
3659
3660
Q1831:What happens when UV light damages DNA? What disease is prone to this damage? Why?
3661
it crease thyamine dimers;- patients with Xeroderma Pigementosa;- they lack excision endonuclease
3662
3663
3664
Q1833:What are two diseases that are associated with DNA repair?
3665
3666
3667
Rifampin
3668
3669
Actinomycin D
3670
3671
3672
3673
3674
3675
TFIID; transcription factors II;they bind before RNA Pol; just like Sigma factors
3676
3677
- sigma factor needs to find promoter region;- two consensus sequences are recognized as TATA BOX
3678
3679
3680
3681
Rho-independent termination occurs when newly formed RNA folds on itself to form GC-rich hairpin loop
3682
3683
Rho displaces RNA pol from the 3' end of the RNA once it has paused at the termination site
3684
3685
Ribosomes
3686
3687
5' end
3688
3689
They can both start at the same time with the help of ShineDalgarno sequences which allow ribosomes to hook on and start the translation before transcription is done
3690
Q1846:What is Shine-Dalgarno?
3691
Shine-Dalgarno sequences lets prokaryotes shine! They can do 2 things at the same time! Transcribe and TRANSLATE!
3692
3693
3694
3695
3696
3697
It is actually hnRNA and a methylguanosine cap Me-Gppp is added to the 5' end
3698
3699
3700
3701
3' end
3702
Q1852:What can you say about the length of the poly A tail?
3703
3704
3705
snRNP; SNURP
3706
3707
3708
3709
3710
3711
3712
3713
3714
3715
3716
3717
3718
3719
in the middle of the loop;center loop in between 5' and 3' ends
3720
3721
3722
3723
3724
Q1863:Who transtalates proteins for secreted proteins; membrane proteins; and lysosomas enzymes?
3725
Rough E.R.
3726
3727
N-terminal hydrophobic signal sequence has to be added to be secreted or placed in the membranes
3728
3729
It is phosphorylated with a mannose residue in the R.E.R;usually this protein is an enzyme to be delivered to the lysosome
3730
3731
3732
3733
3734
3735
alpha-galactosidase A
3736
3737
BB for beta-galactosidase
3738
3739
3740
3741
Sphingomyelinase
3742
3743
Arylsulfatase A
3744
3745
Hexosaminidase A
3746
3747
ceramide trihexoside
3748
3749
renal failure
3750
3751
3752
3753
3754
3755
3756
3757
3758
3759
increase cholesterol and sphyhingomyelin in reticuloendothelial and parenchymal cells;- Patients die by age 3
3760
3761
GM2 ganglioside 2
3762
3763
Cherry-red spot on macula;1:30 carrier in European Jews;Death by age 3;Got a Sach of Cherries in your Macula
3764
3765
3766
Q1884:Which lysosomal storage diseases (of the sphingolipidoses) are autonomal recessive?
3767
3768
3769
3770
3771
3772
3773
alpha-L-iDURONidase
3774
3775
iDURONate sulfatase
3776
3777
3778
3779
Halted growth ;Progressive mental retardation ;Thick; coarse facial features with low nasal bridge ;Cloudy corneas ;Deafness ;Joint disease; including stiffness ;Heart value problems ;Abnormal bones of spine and claw hand
3780
3781
3782
3783
3784
3785
protuberant abdomen; claw hands; excessive hair growth; coarsening of the face with grotesque facial features; retarded growth; and behaviour problems.
3786
3787
3788
3789
Hydroxyproline
3790
3791
3792
3793
3794
3795
3796
3797
3798
3799
3800
3801
Lysine Hydroxylase
3802
3803
3804
3805
3806
3807
3808
3809
3810
3811
3812
3813
3814
3815
3816
3817
eEF-2 is inhibited
3818
Q1910:How many ATPs high energy bonds are needed to translate an amino acid?
3819
4 Total for each amino acid;breakdown;2 ATP for charging;1 GTP for initiation;1 GTP for Elongation
3820
3821
3822
3823
3824
3825
3826
Q1914:What is an operon?
3827
3828
3829
3830
3831
Polycistronic mRNA
3832
3833
3834
3835
Histidine Operon
3836
3837
Lac Operon
3838
3839
3840
3841
3842
3843
3844
3845
3846
3847
3848
3849
3850
3851
lactose induces gene expression since it prevents the repressor protein from binding to the operator sequence
3852
3853
1) lactose binds to repressor and stimulates gene expresssion;2) cAMP is high so it binds to CAP protein and
3854
3855
3856
3857
3858
3859
they are inversely proportional;Glucose high cAMP low;glucose low cAMP high
3860
3861
3862
3863
3864
3865
Beta-Galactosidase
3866
3867
Promoter
3868
3869
Repressor
3870
3871
Operator
3872
3873
Histidine Operon
3874
3875
3876
3877
Tryptophan;Leucine;Phenylalanine
3878
Q1940:What is attenuation?
3879
3880
3881
3882
3883
3884
3885
3886
3887
Shine-Dalgarno sequence
3888
3889
the ribosomes will stall and not form the stem and loop + poly U that stops the ribosomes and they will continue to transcribe the genes of the operon
3890
3891
Response Elements
3892
3893
Some upstream in promoter region;Most in an enhancer region outside of promoter even more upstream
3894
3895
3896
3897
CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and 75)
3898
3899
Contain activator proteins;- may be 1000 bp away from gene;- upstream; downstream; within an intron;-they are tissue specific
3900
3901
Silencers
3902
3903
3904
3905
transcription factors
3906
3907
3908
3909
Zinc Finger
3910
Q1956:What protein class are cAMP response element binding prtoeins? (CREBs)
3911
Leucine Zipper
3912
Q1957:Homeodomain proteins are what protein class and what are they involved in?
3913
3914
3915
3916
Q1959:What is the response element for 1) steroid receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)
3917
3918
Q1960:Which response element is induced with the new tx for insulin resistance?
3919
PPARs;- thiazolidinediones
3920
3921
3922
3923
Glucagon released
3924
3925
increases cAMP
3926
3927
Cortisol secreted
3928
3929
3930
3931
CREB enters the nucleus and binds CRE region in the enhancer region
3932
3933
3934
3935
3936
3937
3938
3939
3940
3941
3942
3943
- Barr Body (inactive X chromosome) in women;- Ig heavy and light chain loci;- T-cell receptor loci
3944
3945
3946
Q1974:How do genes become silenced? Give two diseases that follows this;
3947
3948
3949
Chromosome 15
3950
3951
Prader-Willi region is inherited from Paternal Origin (P for P);so; if father has defective chromosome 15 then symptoms will occur
3952
3953
3954
3955
3956
3957
3958
3959
3960
3961
helix-turn-helix domain
3962
3963
3964
3965
3966
Q1984:Chp. 6
3967
Recombinant DNA
3968
3969
3970
3971
3972
3973
3974
Q1988:What is a vector?
3975
3976
3977
3978
3979
colonies produced by plating the recombinant DNA with antibiotic resistance and sensitivity
3980
3981
These enzymes cut DNA sequences and detect defects in longer sequences or shorter sequences;Example: Sickle Cell Mutation which results in ONE long 1.35 kb fragment instead of a 1.15kb and a 0.2kb fragment (2 fragments is normal)
3982
3983
introns
3984
3985
3986
3987
An expression library
3988
Q1995:What do you do after reverse transcriptase has created the first strand of cDNA?
3989
3990
3991
reverse transcriptase
3992
3993
3994
Q1998:What must be inserted in order to produce proteins as the end product of cloning?
3995
3996
Q1999:What are 3 examples in which cDNA expression libraries are being used?
3997
1) Recombinant Human Insulin;2) Recombinant Factor VIII (treating Hemophilia A);3) Recombinant HBsAg (antigen(protein) is made and given to patients to immunize them against hepatitis B without introducing the live virus)
3998
Q2000:Does the gene therapy cure the patient and subsequent generations?
3999
NO! it cures only the patient since it is only introduced into the affected organ and not into the reproductive tissues of the afected individual
4000
4001
animal in which a new gene has been introduced into its germline
4002
4003
transgenic animals have virtually new gene in every cell; including the gametophytes so that they get passed on to their offspring and these are no longer affected by the defect
4004
4005
studying DNA sequences that are not expressed;- response elements;- introns;- promoters;Constucting restriction maps of DNA (sickle cell);Id genetic markers (microsatellites)
4006
Q2004:Chp. 7
4007
Genetic Testing
4008
4009
- Only one mutant allele needed;- both sexes affected;- male to male transmission
4010
4011
1) Familian Hypercholesterolemia (LDL receptor def.);2) Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute Intermitent Porphyria
4012
4013
- two mutant alleles are requiered;- born to unaffected parents;- either sex;- male to male transmission
4014
4015
4016
4017
- One mutant allele ;- either sex;- affected male passes on to all daughters;- affected female passes trait to both fem and males
4018
4019
4020
4021
4022
4023
1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx (Hypoxanthine-guanine phosphoribosyltransferase HGPRT)self mutilation;3) Glucose-6-Phosphate Dehydrogenase def;4) Hemophilia A and B
4024
4025
4026
4027
LHON; MELAS and MERRF;1) Leber Hereditary Optic Neurophathy;2) Mitochondrial Encephalomyopathy; lactic acidosis; stroke-like episodes;3) Myoclonic epilepsy with ragged red muscle fibers
4028
4029
autosomal recessive
4030
4031
Autosomal Dominat
4032
4033
autosomal recessive
4034
4035
X-linked Dominant
4036
4037
autosomal recessive
4038
4039
X-linked recessive
4040
4041
Autosomal Dominant
4042
4043
Autosomal Dominant
4044
4045
Mitochrondrial Inheritance
4046
4047
x-linked recessive
4048
4049
mitochrondrial inheritance
4050
4051
Autosomal DOMINANT
4052
4053
4054
4055
autosomal recessive
4056
4057
autosomal recessive
4058
4059
4060
4061
autosomal recessive
4062
4063
4064
4065
X-linked recessive
4066
4067
X-linked recessive
4068
4069
4070
4071
the mRNA
4072
4073
4074
4075
4076
4077
4078
4079
4080
4081
4082
4083
Proline
4084
4085
4086
4087
4088
4089
4090
4091
4092
4093
Asparagine;N-linked glycosylation
4094
4095
4096
4097
4098
4099
4100
4101
4102
4103
Catecolamines;Thyroid T3/T4;Melanin
4104
4105
glycine
4106
4107
Phenylalanine
4108
4109
cathecholamiens;thyroid T3T4;melanin
4110
4111
4112
4113
Hartnup Dz;since decreases Niacin B3 and causes Pellagra (dermatitis; diarrhea; demetnia)
4114
4115
4116
4117
4118
4119
4120
Q2061:What is the only a.a. that is useful in maintaining the physiologic pH (7.2-7.4)?
4121
Histidine pK at 7.0
4122
4123
4124
4125
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Leucine;Lysine
4126
4127
4128
4129
negative
4130
4131
Allosteric Enzymes
4132
4133
4134
4135
4136
4137
4138
4139
4140
4141
4142
4143
4144
4145
paracrine
4146
4147
telecrine
4148
4149
4150
4151
4152
4153
4154
4155
4156
4157
Water - second messengers;Lipid - hormone receptor complex binds to response elements (HRE in enhancer region)
4158
4159
4160
4161
water soluble
4162
4163
Water Soluble
4164
4165
Insulin;Glucagon;Catecholamines
4166
4167
Steroids;Calcitriol;Thyroxines;Retinoic Acid
4168
Q2085:What are the three second messengers for water soluble hormones?
4169
4170
4171
4172
4173
4174
4175
4176
4177
4178
4179
vasopressin;epinephrine (alpah 1)
4180
4181
4182
4183
4184
4185
insulin;insulin-like growth factor (IGF);platelet-derived growth factor (PDGF);Epidermal Growth Factor (EGF)
4186
4187
4188
4189
4190
4191
4192
4193
4194
4195
1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp oncogene;pituatary tumor; adenomas; endocrine ovarian turmos
4196
4197
4198
4199
4200
4201
4202
4203
4204
4205
Tyrosine Kinase
4206
4207
4208
4209
4210
4211
tyrosine kinase
4212
Q2107:Vitamins
4213
Chp. 10
4214
4215
4216
4217
4218
4219
4220
4221
Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoffconfabulation; psychosis;Wet Beri-beri cardiac failure lots of ATP needed
4222
4223
Niacin
4224
4225
dehydrogenases
4226
4227
4228
4229
4230
4231
4232
4233
4234
4235
Alcoholism
4236
4237
4238
4239
3 months
4240
4241
4242
4243
4244
4245
4246
4247
4248
4249
4250
4251
pernicious anemia
4252
4253
aging; poor nutrition; bacterial overgrowth of terminal ileum;resection of terminal ileum secondary to Crohn's DZ;chronic pancreatitis;vegans;infection with D. Latum
4254
4255
4256
4257
4258
4259
4260
4261
isoniazis therapy
4262
4263
4264
Q2133:What is B2 vitamin?
4265
RI BO flavin
4266
4267
FAD(H2)
4268
4269
dehydrogenases
4270
4271
4272
4273
4274
4275
4276
4277
4278
4279
vitamin K
4280
4281
2; 7; 9; 10 Protein C and S
4282
4283
4284
4285
4286
4287
Retinal;al
4288
4289
vitamin E
4290
4291
tocopherol
4292
Q2147:What vitamin acts as steroid hormone uptake of dietary Ca+ from gut?
4293
Vitamin D
4294
4295
4296
4297
- increase PTH;- PTH binds to proximal tubules;- cAMP activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal epithelial cells;- Zinc finger proteins binds to response elements (in enhancer region of DNA);- induce synthesis of calcium binding proteins
4298
4299
4300
4301
4302
4303
4304
Q2153:What is needed in patients with renal dz; fanconi sx; and genetic deficiency of 1-alpha-hydroxylase?
4305
they all need to be supplemented with 1;25 DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase is not working
4306
4307
4308
4309
4310
4311
isotretinoin
4312
4313
4314
4315
1) phenylhydantoins during pregnancy ;vit. k deficient baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct occlusin);4) prolong tx w/ antibiotics
4316
4317
increase PT;factor II
4318
4319
4320
Q2161:Inheritance of CF?
4321
Autosomal recessive
4322
Q2162:Inheritance of albinism?
4323
Autosomal recessive
4324
4325
Autosomal recessive
4326
Q2164:Inheritance of phenylketonuria?
4327
Autosomal recessive
4328
Q2165:Inheritance of thalassemias?
4329
Autosomal recessive
4330
4331
Autosomal recessive
4332
4333
Autosomal recessive
4334
4335
Autosomal recessive
4336
4337
Autosomal recessive
4338
4339
Autosomal recessive
4340
Q2171:Inheritance of hemochromatosis?
4341
Autosomal recessive
4342
4343
X-linked recessive
4344
4345
X-linked recessive
4346
4347
X-linked recessive
4348
4349
X-linked recessive
4350
4351
X-linked recessive
4352
4353
X-linked recessive
4354
4355
X-linked recessive
4356
4357
X-linked recessive
4358
4359
X-linked recessive
4360
4361
X-linked recessive
4362
Q2182:how many chromosomes and autosomes does each cell have?;what is the genetic term?
4363
4364
Q2183:Definition;a chromosome number that is not a multiple of 23 (the normal haploid number)
4365
Aneuploidy
4366
4367
4368
Q2185:what most commonly occurs w/ a polyploidy fetus?;give an example of what polyploidy means
4369
4370
Q2186:Definition;two acrocentric chromosome are joined by common centromere causing the joining of the long arms (and possible loss of the short arms)
4371
Robersonian Translocation
4372
4373
4374
4375
4376
Q2189:Definition;when the cells in the body have a different genetic make-up (such as random X inactivation in females)
4377
Mosaicism
4378
Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds; Brushfield spots; simian crease;genetic problem?
4379
4380
4381
4382
4383
4384
4385
AAA;ASD;ALL;Alzheimers
4386
Q2194:what is the maternal screening for Down's;1. Alphafetoprotein;2. hCG;3. Unconjugated estriol
4387
4388
Q2195:Dx;severe mental retardation; microcephaly; wide-set eyes; low birth weight; round face; unusual cry;genetic problem?
4389
4390
Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic aplasia; abnormal facies; cleft palate;genetic problem?
4391
4392
Q2197:Dx;mental retardation; prominent occiput; Micrognathia; Rocker-bottom feet; index finger overlaps 3rd and 4th fingers; Congenital heart dz;genetic problem?
4393
4394
Q2198:Dx;mental retardation; microcephaly; Microphthalmia; cleft lip and palate; Polydactyly; rocker-bottom feet;genetic problem?
4395
4396
Q2199:Definition;disorder when there are at least two Xchromosomes and one or more Y-chromosomes
4397
Klinefelter syndrome
4398
Q2200:Dx;male w/ Atrophic testes; Tall stature; Gynecomastia; decreased testosterone; increased pituitary gonadotropins; male infertility;genetic problem?
4399
4400
4401
XYY syndrome
4402
4403
Turner's syndrome
4404
Q2203:Dx;Short stature; shield-like chest; Amenorrhea; Webbed neck; Ovary replaced by Fibrous Streaks;genetic problem?
4405
4406
4407
4408
4409
4410
Q2206:Dx;mental retardation; long face w/ large jaw; large everted ears; Autism; Macro-orchidism;genetic problem?
4411
4412
Q2207:what is the underlying (biochemical) cause of Fragile X syndrome?;what is unusual about this syndrome?
4413
defect in Methylation of FMR1 gene;X-linked problem that may show signs of retardation in male and female offspring
4414
4415
Anticipation;(Huntingtons)
4416
Q2209:Definition;hereditary disorders in which differing phenotypes occur depending on whether an abnormal gene is of maternal or paternal origin;(examples)
4417
4418
Q2210:Dx;mental retardation; hypogonadism; hypotonia; behavior problems; uncontrolled appetitie leading to obesity and DM;genetic problem?
4419
4420
4421
4422
4423
Incomplete penetrance
4424
Q2213:Definition;one gene has greater then one effect on the individual's phenotype
4425
Pleiotropy
4426
Q2214:Definition;a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
4427
4428
4429
Locus Heterogenicity;(Albinism)
4430
4431
4432
4433
p+q=1
4434
4435
HP = 2pq
4436
4437
Autosomal Dominant
4438
4439
Autosomal Recessive
4440
4441
no male-to-male transmission
4442
4443
4444
Q2223:Lysosomal storage Dz;peripheral neuropathy of hands and feet; angiokeratomas; CV and renal Dz;Enzyme?;inheritance?
4445
4446
Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic necrosis of femur; bone pain; unique macros;Enzyme?
4447
Gaucher's Dz;(Glucocerebrosidase)
4448
4449
Niemann-Pick;(Sphingomyelinase)
4450
Q2226:Lysosomal storage Dz;progressive neurodegeneration; developmental delay; cherry-spot macula; lysozymes w/ onion skin;Enzyme?
4451
Tay-Sachs Dz;(Hexosaminidase A)
4452
4453
4454
4455
4456
Q2229:Lysosomal storage Dz;mild developmental delay; mild gargoylism; airway obstruction; aggressive behavior;Enzyme?;inheritance?
4457
4458
4459
4460
4461
4462
4463
4464
4465
4466
4467
4468
4469
4470
Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural tumors; pigmented iris hamartomas; scoliosis
4471
4472
Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas; optic pathway gliomas; juvenile cataracts
4473
4474
Q2238:Autosomal Dominant Dz;facial lesions; hypopigmented "ash leaf spot" on skin; cortical and retinal hamartomas; seizures; mental retardation
4475
Tuberosus Sclerosis
4476