At which end of the tRNA is

the aa bound?
Can RNA polymerase initiatechains?
Define transition.
Define transversion.
The amino acid is covalentlybound to the 3' end of the
tRNA.
Yes.
Substituting purine for purineor pyrimidine for pyrimidine.
Substituting purine forpyrimidine or vice versa.
Define tRNA wobble.

Describe DNA replication.

Describe DNA replication

(continued answer)

Accurate base pairing isrequired only in the first 2

nucleotide positions of anmRNA codon, so codonsdiffering in the 3rd 'wobble'posi
tion may code for thesame tRNA/amino acid.
Origin of replication: continuous DNAsynthesis on leading strand anddiscontinuou
s (Okazaki fragments) onlagging strand. Primase makes an RNAprimer on which DNA
polymerase caninitiate replication. DNA polymerasereaches primer of preceding fr
agment;
5'®3' exonuclease activity of DNApolymerase I degrades RNA primer;
DNA ligase seals;
3'->5' exonuclease activity ofDNA polymerase 'proofreads'each added nucleotide.
DNA
topoisomerases create a nickin the helix to relieve
supercoils
Less condensed (vs.
Describe Euchromatin
Heterochromatin),
transcriptionally active
Condensed, transcriptionally
Describe Heterochromatin
inactive
Describe key structural
differences between
nucleotides.

Describe single-strand,
excision repair.

Describe the difference

between Eukaryotic Vs.
Bacterial, viral and plasmidorigin of replications
1) Purines (A,G) have 2 rings.
2) Pyrimidines (C,T,U) have 1ring 3) Guanine has a ketone.
4) Thymine has a methyl
Excision repair-specific
glycosylase recognizes andremoves damaged base.
Endonuclease makes a break
several bases to the 5' side.
Exonuclease removes short
stretch of nucleotides. DNA
polymerase fills gap. DNA ligase
seals.
Eukaryotic genome hasmultiple origins ofreplication. Bacteria, virusesand plasmi
ds have only oneorigin of replication.
Describe the main difference
in eukaryotic and prokaryotic
synthesis of RNA.

Describe the method bywhich introns are removed

from primary mRNAtranscript.
Describe the number of
bonds per purine-pyrimidine
pair. Which is stronger?

Describe the structure of

Chromatin.

Eukaryotes have 3 different

RNA polymerases ('I, II, IIIsynthesize RMT') and
prokaryotes have 1 RNApolymerase (which makes all3 kinds of RNA).
Introns are precisely spliced outof primary mRNA transcripts. A
lariat-shaped intermediate isformed. Small nuclear
ribonucleoprotein particles(snRNP) facilitate splicing bybinding to primary mRNA
transcripts and formingspliceosomes.
G-C bond (3 H-bonds) A-T
bond (2 H-bonds G-C bond is
stronger

Condensed by (-) chargedDNA looped around (+)

charged histones(nucleosome bead). H1 tiesthe nucleosome together in astring (30
nm fiber)
Describe tRNA structure.

Does RNA polymerase have aproof reading function?

How do purines andpyrimidines interact,
molecularly?
How does RNA polymerase IIopen DNA?
75-90 nucleotides, cloverleafform, anticodon end is opposite3' aminoacyl end. Al
l tRNAs botheukaryotic and prokaryotic, haveCCA at 3' end along with a highperce
ntage of chemicallymodified bases. The amino acid
is covalently bound to the 3' endof the tRNA.
No.
Purines and pyrimidines pair(A-T, G-C) via H-bonds
RNA polymerase II opens DNAat promoter site (A-T richupstream sequence- TATAand
CAAT)
1) Capping on 5' end (7

How is the original RNA

methyl G) 2)Polyadenylation
transcript processed in
on 3' end ( =200 As) 3)
eukaryotes? (3)
Splicing out of introns
In eukaryotes, what mustoccur before an newlysynthesized RNA transcriptleaves th
e nucleus?
Only processed RNA is
transported out the nucleus
of eukaryotes.

Name 3 types of RNA

1) mRNA 2) rRNA 3) tRNA
Name the charged histonesaround which (-) charged
H2A, H2B, H3, H4 histones
DNA loops (nucleosome
core).
Name the enzyme responsiblefor the synthesis of RNA in
RNA polymeraseprokaryotes.
Name the enzymes involved
in ss-DNA repair. (5)

Name the enzymes

responsible for the synthesis
of eukaryotic RNA.

1) specific glycosylase. 2)
endonuclease. 3)
exonuclease. 4) Danpolymerase. 5) DNA ligase.
RNA polymerase I RNA
polymerase II RNA
polymerase III

Exons contain the actual

What are exons?
genetic information codingfor a protein
What are four types of
1) Silent 2) Missense 3)
mutations that can occur in
Nonsense 4) Frame shift
DNA?
Introns are intervening
What are introns?
noncoding segments of DNA
What are the four features of
the Genetic Code?

1) Unambiguous 2)
Degenerate 3) Commaless,
non-overlapping 4)Universal

What atoms link aa in a

Amino acids are linked N to C
protein chain?
What changes occur in DNA
In mitosis, DNA condenses to
structure during mitosis?
form mitotic chromosomes
What codon sequence is
found at the 3' end of all
tRNAs?

What direction is DNA

synthesized in?

All tRNAs, both eukaryotic

and prokaryotic, have CCA at
3' end.

5' > 3'. Remember that the

5' of the incoming nucleotidebears the triphosphate(energy source for the bond).
The 3' hydroxyl of thenascent chain is the target.
Protein synthesis also
What direction is protein
proceed in the 5' to 3' (5' >
synthesized in?
3')
What direction is RNA
synthesized in?

What does the AUG mRNA

sequence code for?

What does the P in P-site

stand for? What does the A in
A-site stand for?

5' > 3'. Remember that the

5' of the incoming nucleotidebears the triphosphate(energy source for the bond).
The 3' hydroxyl of thenascent chain is the target.
AUG codes for methionin,
which may be removed beforetranslation is completed. In
prokaryotes the initial AUGcodes for a formyl-methionin(f-met).
P-site: peptidyl; A-site:
aminoacyl;

What does the statement, 'the

The code is non-overlapping.
genetic code is commaless'
The exception are some
mean? What is the exception
viruses
to this rule?
What does the statement, 'the
More than one codon may
genetic code is degenerate'
code for the same amino acid
mean?
What does the statement, 'the
genetic code is unambiguous'
mean?

What does the statement, 'thegenetic code is universal'mean? What are the
exceptions (4)?
What enzyme is responsible
for 'charging' tRNA? How does
it work?

Each codon specifies only one

amino acid

The same code is used in all

lifeforms. The exceptions are1. mitochondria, 2.
archaeobacteria, 3.
Mycoplasma, 4. some yeasts
Aminoacyl-tRNA synthetase.
This enzyme (one per aa, usesATP) scrutinizes aa before andafter it binds to tRN
A. If
incorrect, bond is hydrolyzedby synthetase. The aa-tRNA
bond has energy forformation of peptide bond.
What inhibits RNA polymerase
alpha-amanitin inhibits RNA
II?
polymerase II
What is a conservative
missense mutation?

What is a frameshift
mutation? What is usually theeffect on the encoded
protein?
Mutation results in a different
aa encoded, but that new aais similar in chemical
structure to the original code
A change in DNA resulting inmisreading of all nucleotidesdownstream. Usually res
ultsin a truncated protein.
Mutation results in a different
What is a missense mutation?
aa encoded.
A change in DNA resulting in
What is a nonsense mutation?
an early stop codon.
What is a promoter?

What is a silent mutation?

What usually causes a silent
mutation?

What is a snRNP? What is its

function?

Site where RNA polymeraseand multiple othertranscription factors bind toDNA upst
ream from genelocus.
Mutation results in the same
aa encoded. Often the base
change is in the 3rd positionof the codon
snRNP = small nuclear
ribonucleoprotein. snRNPs
facilitate splicing by bindingto primary mRNA transcriptsand forming spliceosome
s.
What is an enhancer?
What is an Okazaki fragment?
What is hnRNA?
What is responsible for theaccuracy of amino acidselection during peptidesynthes
is?
Stretch of Dan that alters
gene expression by bindingtranscription facts. May belocated close to, far from,
oreven within (an intron) thegene whose expression itregulates.
The discontinuous DNA
synthesized on the laggingstrand during DNA replication
hnRNA = heterogeneousnuclear RNA The initial RNA
transcript is called hnRNA
Aminoacyl-tRNA synthetaseand binding of charged tRNAto the codon are responsible
for accuracy of amino acidselection.
What is the broad
Purines (A, G) and Pyrimidines
classification of nucleotides?
(C, T, U)
(2)
What is the difference
between hnRNA and mRNA?

hnRNA = the initial RNA

transcript mRNA = capped
and tailed transcript

What is the difference

Uracil found in RNA Thymine
between thymine and uracil?
found in DNA
What is the function of DNA
DNA ligase seals synthesized
ligase during DNA
DNA into a continuous strand
Replication?
What is the function of DNA
polymerase during DNA
Replication? (2)

What is the function of DNA

topoisomerase during DNA
Replication?

What is the function of

primase in DNA Replication?

5'®3' exonuclease activity ofDNA polymerase I degradesRNA primer; 3'®5'

exonuclease activity of DNApolymerase 'proofreads' eachadded nucleotide.
DNA topoisomerases create a
nick in the helix to relieve
supercoils

Primase makes an RNA

primer on which DNApolymerase can initiatereplication.
What is the function of RNA
RNA polymerase I makes
polymerase I?
rRNA
What is the function of RNA
RNA polymerase II makes
polymerase II?
mRNA
What is the function of RNA
RNA polymerase III makes
polymerase III?
tRNA
What is the mRNA initiation
AUG, or rarely GUG
codon?
What is the mRNA stop
UGA (U Go Away) UAA (U Are
codons? (3)
Away) UAG (U Are Gone)
A mischarged tRNA (bound to
What is the result of
wrong aa) reads usual codon
'mischarged' tRNA?
but inserts wrong amino acid.
What is the role of
endonuclease in ss-DNA
repair?

What is the role of excision

repair-specific glycosylase in
ss-DNA repair

Endonuclease makes a break

several bases to the 5' side.

Recognizes and removes

damaged base.

What is the role of

Exonuclease removes short
exonuclease in ss-DNA
stretch of nucleotides.
repair?
If incorrect, the aa-tRNA
What prevents an incorrect
bond is hydrolyzed by
aa-tRNA pairing?
aminoacyl-tRNA synthetase.
What role does histone H1
play in chromatin structure?

What supplies the energy for

formation of peptide bond?

H1 ties the nucleosome

together in a string (30nm
fiber)

The aa-tRNA bond has energy

for formation of peptide
bond.

Promoter mutation commonly

What would most likely be the
results in dramatic decrease
result of a mutation of the
in amount of gene
promoter sequence?
transcribed.
ATP is used in tRNA charging,
When is ATP used in protein
whereas GTP is used in
synthesis? When is GTP used
binding of tRNA ribosome
in protein synthesis?
and for translocations.
When is recombination
involved in DNA repair?

If both strands are damaged,

repair may proceed viarecombination with
undamaged homologouschromosome.
Where does RNA processing
RNA processing occurs in the
occur in eukaryotes?
nucleus.
Which is the largest type of
mRNA (massive)
RNA?
Which is the most abundant
rRNA (rampant)
type of RNA?
Which is the smallest type of
tRNA (tiny)
RNA?
Which nucleotide position in
the codon has room for
'wobble'?

Codons differing in the 3rd'wobble' position may codefor the same tRNA/aminoacid

Electrophorese RNA on a geltransfer to a filter expose

How do you do a Northern
filter to a labeled DNA probe
Blot?
visualize the DNA probeannealed to the desired RNA
How do you do a Southern
Blot?

How do you do a
Southwestern blot?

How do you do a Western

Blot?

How do you do PCR? (4 steps)

Electrophorese DNA on a geltransfer to a filter and

denature the DNA expose toa labeled DNA probevisualize probe annealed todesired
DNA fragment
Separate protein byelectrophoresis transfer to afilter expose to a labeled DNA
probe visualize DNA bound todesired protein
Separate protein byelectrophoresis transfer to afilter expose to a labeled
antibody visualize Ab boundto desired protein
1. Heat DNA to denature. 2.
Cool DNA and let the primersaneal. 3. Heat-stable
polymerase replicates DNAfollowing each premer 4.
Repeat
What are some genetic
diseases detectable by PCR?
(11)

SCID, Lesh-Nyhan, CF,

familial hypercholesterolemiaretinoblastoma, sickle cell, B-
thalassemia, hemophilia Aand B, von Willebrand's dz,
lysosomal dz, and glycogenstroage dz
What gene is involved in
CFTR
cystic fibrosis?
What gene is involved infamilial
LDL-R
hypercholesterolemia?
What gene is involved in
HGPRT
Lesh-Nyhan syndrome?
What gene is involved in
Rb
retinoblastoma
What gene is involved in
SCID?

What gene is involved in

Sickle cell and ?-thal?

What is an ELISA (enzyme

linke immunosorbant assay)?

adenosine deaminase
? globin gene
Rapid lab test in which anantibody or an antigen(usually collected from apatient
) is exposed to an Agor Ab liked to to an enzyme.
A positive test results in aAg-Ab match and is usuallyindicated by a color chang
e
Lab procedure used toWhat is PCR?
synthsize many copies of a
desired fragment of DNA
Von Geirke's disease is a
result of?

A build up of sphingomyelinand cholesterol in

reticuloendothelial and
parenchymal cells and tissuesis found in what disease
A child is born with multiple
fractures and blue sclera what
is the diagnosis

Glucose-6-phosphatasedeficiency; also known as

Type I Glycogen Storagedisease
Niemann-Pick disease

Osteogenesisimperfecta;disease ofabnormal collagen synthesisresulting in fractur

es andtranslucent Conn tiss over
chorioid causing the bluesclera
A congenital deficiency of
tyrosinase would lead to
A patient presents withcataracts,
hepatosplenomegaly, andmental retardation, what isthe Dx?
A patient presents withcorneal clouding and mentalretardation that is, based onf
amily history, inherited in anAutsomal recessive pattern,
you impress your intern witha Dx of
A patient presents with 1.
Hyperextensible skin 2.
Tendency to bleed 3.
Hypermobile joints youastutely Dx them with
Albinism, can't synthesizemelanin from tyrosine
Galactosemia
Hurler's syndrome
Ehlers-Danlos syndrome
Absence of
Galactosylceramide Beta-
galactosidase leads tothebuild up of whatcompound in what disease
Absence of hexosaminidase A
results in the acumulation of
what molecule that is
characteristic of what disease
accumulation of
galactocerebroside in the
brain; Krabbe's disease

GM2-ganglioside
accumulation; Tay-Sachs
disease

albinism increase risk of

skin cancer
developing what
Autosomal dominant defects
will effect what members of a
male and female
family
Autosomal recessive
disorders often result in what
enzyme deficiencies
kind of defect/deficiencie?

Autosomal recessive
disorders usually effect how

usually only one generationmany generations in a family?

Bloom's syndrome is
sensitivity to radiation as a
characterized by sensitivity to
result of a DNA repair defect
what as a result of
Creatine and Urea are both
Arginine
made from?
Defects in structural genesoften follow what pattern of
Autosomal dominant
inheritance?
Defiency of arylsulfatase A
results in the accumulation of
what molecule where

define genetic imprinting

sulfatide in the brain, kidney,

liver, and peripherla nerves.
Characteristic of
Metachromatic
Leukodystrophy
when differences in
phenotype depend onwhether the mutation is of
paternal or maternal origin
when not all individuals with
define incomplete penetrance
a mutant genotype show themutant phenotype
define Linkage Disequilibrium
define pleiotropy
Define variable expression
Fanconi's anemia is caused bywhat typr of agents
the tendency for certainalleles at two linked loci to
occur together more oftenthatn expected by chance, asmeasured in a population
one gene has more than oneeffect on an individual's
phenotype, autosomaldominant defects are oftne
pleiotropic
nature and severity of thephenotype varies from oneindividual to another
cross-linking agents
Ganglioside is made up of
Ceramide + oligosacharide +
what
sialic acid
Gaucher's disease is caused
by a deficiency of
Glucocerebroside
accumulation in the brain,
liver, spleen, and bonemarrow are characteristic of
Hglycine is used to make
what important compound
Beta-glucocerebrosidase
Gaucher's disease
Porphyrin which is then usedto make Heme
Histamine is synthesized
Histidine
form what compound
How does adenosine
deaminase defiency cause
SCID

How is Lesch-Nyhan
syndrome inheritied andwhat
is the result and symptoms

Purine salvage pathway. ADA

normal converts adenosine to
inosine without it ATP &
dATP build up inhibitingribonucleotide reductase
which prevents DNAsynthesis loweringlymphocyte production
X-linked recessive; increasein uric acid production.
Retardation, self mutalation,
aggression, hyperuricemia,
gout, and choreathetosis
Hunter's syndrome is
deficiency of iduronate
characterised by what
sulfatase; X-linked recessive
biochemical problem and how
mild form of Hurler's
is it inherited
In ataxia-telangiectasia DNAdamage caused by what
X-rayssource cannot be repaired
in G6PD deficiency the
decrease in NADPH can lead
to _____ if exposed to _____

In PKU what builds up and

what can be found in the
urine

hemolytic anemia;oxidizingagents( fava beans,

sulfonamides, primaquine)
and antituberculosis.
phenyalanine builds upe
leading to phenylketones in
the urine

In PKU, what amino acid

tyrosine.
becomes essential
in the Hardy-Weinberg
p and q are each separate
equation, what are the p and
alleles; 2pq = heterozygote
q and what is 2pq
no male to male transmission
is characteristic of what type
X-linked recessive
of genetic disorders?
Pompe's disease is caused by lysosomal alpha-1,4a
defect in?
glucosidase defiency
Sickle cell anemia is caused
AR single missense mutationby what defect and what is
in the beta globin; 1:400it's prevalence
blacks
recurrent painful crisis and
Siclkle cell anemia patients
increased susceptibility to
often present with
infections
Skin sensitivity to UV lightsecondary to a DNA repairdefect is characteristic of
what?
xeroderma pigmentosum

Sphingosine + fatty acid

ceramide
yields
the COL1A gene mutation is
Osteogenesis
associated with what disease
imperfecta;dominant negitive
and what type of mutation is
mutation
this
The main defect in Ataxiatelangiectasi
is a ___
The most common form of
Osteogenesis imperfecta haswhat genetic problem andinheritance
the transporter for whatamino acids is defective in
cystinuria
Thymidine dimers are formedby exposure of DNA to UVlight, are the dimers formedo
n the opposing strands of aDNA molecule or on the same
side?
DNA repair defect
abnormal Collagen Type Isynthesis;Autosomaldominant
COLA: Cys,Ornithine, Lysineand Arginine
dimers are on same side
Tryptophan can be used to
Niacin, 'Serotonin, melatonin
make what three chemicals
Type III Glycogen storage
disease is a defiency of ?

What is the cause Tx and

symptoms of Lactase
intolerance?

deficiency of debranching
enzyme alpha-1,6glucosidase

Lactase defiency, avoid diary

products or add lactse pills todiet symptoms bloating,
cramps, osmotic diarrhea
none, mitochondrialWhat % of kids born to father
myopathies are inheritedwith mitochondrial myopathie
from mitochondria which is
will be effected
only inherited from themother
What are the clinical signs of
optic atrophy, spasticity, early
Krabbe's disease
death
What are the components of
Cerebroside

What are the components of

Sphingomyelin

What are the components of

sphingosine

Ceramide + glucose/
galactose
Ceramide +
phosphorylcholine
serine + palmitate
What are the findings and
neurologic defects; increase
treatment of pyruvate
intake of ketogenic nutrients
dehydrogenase
What are the findings in
McArdles's disease and what
is the problem

What are the findings in PKU

and what is the treatment

What are the findings in

Pompe's disease and what is
it alternate name

increased glycogen in skeletalmuscle due to a Glycogenphosphorylase defiency

strenuous exercise cause
myoglobinuria and painfulcramps
Mental retardation, fair skin,
eczema, musty body odor Tx.
Decreasee phenylalanin(nutrasweet) and increasetyrosine
Cardiomegaly and systemicfindings, leading to early
death. Pompe's trashes thePump. (Heart, Liver andmuscle) Type II Glycogenstorage
disease
severe fasting hypoglycemia,
What are the findings in Von
increased glycogen in the
Gierke's disease
liver
What are the four
assumptions of the Hardy-
Weinberg equilibrium

1.There is no mutation
occuring at the locus 2. Thereis no selection for any of thegeno types at the lo
cus 3.
Random mating 4. nomigration in or out
What are the purely ketogneic
lysine and leucine
amino acids
What are the signs and
asymptomatic, benign,
symptoms of essential
Fructose appears in blood
fructosuria
and urine
what are the signs and
symptoms of Homocystinuria

What are the symptoms of

Alkaptonuria

Homocysteine accumulates inurine and cystine becomesessential Methionine and it'

s
metabolites build up in bloodMental retardation,
osteoporosis, dislocation ofthe lens
Dark Urine from alkaptonbodies; also connective tissueis dark, may have arthralg
ias.
Bengin disease
What are the symptoms of
hypoglycmeia, jaundice,
Fructose intolerance
cirrhosis
CNS defects, mental
What are the symptoms of
retardation and death. Urine
Maple syrup Urine disease
smells like maple syrup
tyrosine, thyroxine Dopa
What biological chemicals are
dopamine NE, Epinephrine
derived form phenylalanine
and Melanin
What causes Essential
defect in fructokinase
Fructosuria
What causes Lesch-Nyhan
syndrome

Absence of HGPRTase,
(normally convertshypoxanthine to IMP andguanine to GMP) Lacks
Nucleotide Salvage (LNS)purines

What do melanin and

both derived directly from
Norepinephrine have in
dopamine Phenylalanine to
common
tyrosine to Dopa to Dopamin
What does the term 'loss of
heterozygosity' mean

What enzyme defiencies are

associated with hemolytic
anemia

What event in embryology can

cause albinism

What genetic error can cause

Severe Combined
Immnuodeficiency (SCID)?

when one allele of an allele pair islost. An example is when a

patient inherits or develops amutation in a tumor suppressorgene and the complim
entaryallele is then lost to deletion/
mutation. The patient would notdevelop the cancer until the lossof the normal al
lele.
Glycolytic enzymedeficiencies 1. Hexokinase
2.glucose-phosphateisomerase 3.aldolase
4.triose-phosphate isomerase5. phosphate-glyceratekinase enolase pyruvatekinase
lack of migration of neural
crest cells to skin (form
melanocytes)

Adenosine deaminase
deficiency
what group of people can be
alcoholics due to B1
seen with pyruvate
defiecincy
dehydrognease deficiency
What is a complication of
cystine kidney stones
cystinuria
What is a dominant negitive
mutation?

a mutation that exerts a

dominant effect because the
body cannot produce enoughof the normal gene productwith only one allelefunction
ing normally
What is a good pnuemonic for
Very-Von Gierke's Poor-
the four glycogen storage
Pompes Carbohydrate-Cori's
diseases
Metabolism-McArdles
What is commonly associatedwith xeroderma pigementosa?
What is crucail to the
diagnosis of an Autosomaldominant disease?
What is genetic anticipation?
What is inheritance of G6PD
dfiency and what population
is effected more often
dry skin, melanoma and othercancers
Family history
the severity of the diseasworsens or age of onset ofdisease is earlier in
succeeding generations
X-linked recessive; blacks
What is NAD/NADP made
Niacin, 'Serotonin, melatonin
form
What is osteogenesisimperfecta often confused
child abuse
with
What is the biochemical
defect in Metachromatic
leukodystrophy and what isthe inheritance pattern
deficiency of arylsulfatase A;
Autosomal recessive

What is the biochemical

deficiency of Beta-
defect in Nieman-Pick
glucocerebrosidase;
disease and how is it
autosomal recessive
inherited
What is the biochemical effect
of G6PD defiency

What is the cause of

Cystinuria and what are the
signs/symptoms

What is the cause of Fabry's

disease and what is the
common clinical problem

decrease in NADPH which is

necessary to reduceglutathione which in turndetoxifies free radicals and
peroxides
inheritied defect o the tubular
amino acid transporter forCystine, ornithine, Lysine andArginine in kidneys exce
sscystine in urine
Alpha-galactosidase Adeficiency; gives
accumulation of ceramide
trihexoside causing renalfailure
Absence of galactose-1What
is the cause of
phosphate uridyltransferase;
galactosemia?
accumualtion of toxic
substances (galactitol)
Alpha-L-iduronidase defiency
What is the characteristic
leads to corneal clouding and
defect in Hurler's syndrome
mental retardation
What is the characteristic
findings in Neurofibromatosis

What is the clinical picture of

a patient with cystic fibrosis

Multiple café-au-lait spots,

neurofibromas increased
tumor susceptibilty

pulmonary infections,
exocrine pancreaticinsufficiency, infertility inmen
What is the clinical picture of
muscular weakness and
Duchenne's muscular
degeneration
dystrophy
decreased Alpha-ketoacidWhat is the defect in Maple
dehydrogenase. blocksSyrup Urine disease
degradation of branched
amino acids Ile. Val. Leu
What is the epidemiology of Age-dependnet and/orlactose intolerance
hereditary (blacks and Asians)
What is the etiology of
Homocystinuria

defect in cystathioninesynthase. Two forms: 1.

deficiency 2. decreased
affinity of synthase forpyridoxal phosphate(cofactor)
What is the finding of
mild mental retardation but
Hunter's syndrome on
no corneal clouding
H&P
What is the formula for
p^2 +2pq + q^2 =1 and pHardy-Weinberg equilibrium?
+q=1
What is the genetic mech. Of
AR; multiple loss-of-functionCystic fibrosis and it's
mutations in a chloride
inheritance
channel
What is the genetic
X-linked recessive;caused bymechanism of Duchenne's
multiple loss-of-funtionmuscular dystrophy
mutations in a muscle protein
X-linked; progressiveexpansion of unstable DNA
What is the genetic
causes failure to express
mechanism of Fragile X MR
gene-encoding RNA-bindingprotein
what is the genetic
AD, multiple loss-of function
mechanism of
mutations in a signaling
Neurofibromatosis
molecule
What is the genetic problem
trisomy 21 chromosomal
in Down's Syndrome
imbalance
What is the inheritance of
Autosomal recessive
Krabbe's disease
Autosomal recessive; 1:30 in
what is the inheritance
Jews of European descent and
pattern and carrier frequency
1:300 in the general
in Tay-Sach's
populaition
What is the inheritance
pattern of Ehlers-Danlossyndrome
What is the inheritance
pattern of Gaucher's disease
What is the inheritance
pattern of xerodermapigmentosa
What is the inheritiance
pattern of Fabry's disease
10 types of this syndromeType IV-Auto Dominant TypeVI-Auto Recessive Type IX-
X-linked recessive
Autosomal recessive
autosomal recessive
X-linked recessive
Heinz Bodies: altered
What is the lab symptoms of
hemoglobin precipitate in
G6PD defiency
RBC
What is the most
distinguishing finding in TaySach's
disease on Physicalexam
What is the pathogneumonic
cell type founde in Gaucher's
disease

cherry red Macula; these

patients die by 3

Gaucher's cells with the

characteristic 'crinkled paper'appearance of enlargedcytoplasm
What is the pattern of
inheritance of Leber's

mitochondrial inheritance
hereditary optic neuropathy?
increased susceptibility to
What is the phenotype in
fractures;connective tissue
Osteogenesis imperfecta
fragility
What is the phenotype of
Down's syndrome

What is the phenotype of

Fragile X

Mental and growthretardation, dysmorphicfeatures, internal organanomalies especi

ally heartproblems
mental retardation,
characteristic facial features,
large testes

What is the predominantproblem in Ehlers-Danlos

Faulty collagen synthesissyndrome
What is the prevalance of
1:2000 whites; very rare
cystic fibrosis
among Asians
What is the prevalandce of
1:3000 with 50% being new
Neurofibromatosis
mutations
What is the prevalence of
1:800; increased risk with
Down's syndrome and what
advanced maternal age
are the risk factors
What is the prevalence of
1:300; 33% new mutations
Duchenne's musc. dys.
What is the prevalence of
Fragile X- associated mental
retardation

What is the prevalence of

osteogenesis imperfecta

What is the prevalence of

Phenylketonuria

What is the priamry defect in

Fructose intolerance and how
is it inherited?

1:1500 males: can be in

feamales is a multi-step
process

1:10000,

1:10000

defiency of aldolase B,
autosomal recessive
congenital defiency of
What is the primary defect in
homogentisic acid oxidase in
Alkaptonuria
the degradative pathway oftyrosine
What is the primary defect(s)
found in Phenylketoneuria

What is the rate-limiting

enzyme in the Hexose-
Monophosphate shunt?

either 1.decreased
phenylalanie hydroxylase or2. decreased
tetrahydrobiopterin cofactor
Glucose-6-phosphate
dehydrogenase

backup of substrate (pyruvate

What is the result of pyruvate
and alanine) resulting in lactic
dehydrognease deficiency
acidosis
defective excision repair suchWhat is the specific defect in
as uvr ABC exonuclease; haveXeroderma pigmentosa
inability to repair thymidinedimer formed by UV light
What is the treament of
Cystinuria and what is apossible consequence of nottreating
What is the treatment of
fructose intolerance?

What is the treatment of

Homocystinuria

Acetazolide to alkinlize the

urine cystine kidney stones
due to excess cysteine

decrease intake of both

fructose and sucrose (glucose+ fructose)
1. For a defiency in
cystathionine synthase tx bydecrease Met and increase
Cys in diet 2. for decreasedaffinity of synthase Tx bydecrease vitamin B6 in die
t
Exclude galactose and lactose
What is the Tx of
(galactose +glucose) form
galactosemia?
diet
what offspring of femalesaffected with a mitochondrial
inherited disease will be
effected?
what percent of offspringfrom two autosomal recessive
carrier parents will beeffected?
all offspring can be effected

25%

what percent of sons of aheterazygous mother carrying

50%
an x-linked disease will be
effected?
What period of life do
often present clinically after
autosomal dominant defects
puberty
present in?
What three phenyl ketones
phenylacetate, phenyllactate,
build up in the urine of PKU
phenylpyruvate
patients
What to thyroxine and Dopa
both derived form tyrosine
have in common
What type of genetic error isusually more severe
AR disorders are often more
autosomal recessive or
severe
dominant?
What type of inheritance istransmitted only through
mitochondrial
mothers?
When do patients usually
present with autosomal

present in childhoodrecessive disorders?

Why are RBC so susceptible to
Glycolytic enzyme def.

Why do people with fructose

intolerance become
hypoglycemic?

RBC's metabolize glucoseanaerobically (nomitochondria) and dependson glycolysis

deficent aldolase B causes the
accumulation of Fructose 1phosphate
which acts as aphosphate sink and traps thephosphate. Decreased
phosphate availability inhibitsglycogenolysis andgluconeogenesis
X-linked recessive disease is
males
aften more severe in
2,3-BPG via
1,3-BPG
bisphosphoglycerate mutase
Acyl
coenzyme A, lipoamide
aldehydes
TPP
prostaglandins, -
Arachidonate
thromboxanes, -leukotrienes
Associate the following signal
j
molecule precursors.
At body pH, what AA are
Arg and Lys His is neutral at
negatively charged?
pH 7.4
At body pH, what AA are
Asp and Glu
positvely charged?
ATP
cAMP via adenylate cyclase
By what rxn order kineticsdoes alcohol dehydrogenase
zero order kinetics
operate?
CH(3) groups
SAM
Choline
CDP-choline
Choline
CO(2)

Contrast glucagon andinsulin.

Contrast hexokinase and
glucokinase.
ACh via choline
acetyltransferase
biotin
glucagon phosphorylatesstuff, -turns glycogensynthase off and
phosphorylase on
hexokinase throughout thebody, -GK in liver and haslower affinity but highercapa
city for glucose
Contrast hexokinase and
glucokinase.
Does insulin affect glucoseuptake of brain, RBC's andliver?
Does insulin inhibit glucagonrelease by alpha cells ofpancreas?
electrons
only HK is feedback inhibitedby G6P
No
yes
NADH, NADPH, FADH(2)
Fructose-6-phosphate

Glucose
glutamate
GTP

fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)

UDP-Glucose
GABA via glutamatedecarboxylase (requires vit.
B6)
cGMP via guanylate cyclase
How are ketone bodies
excreted?

How are ketone bodies

formed?
How do the statin drugswork?
How does disulfiram work?

in urine

FA and AA converted to
acetoacetate and bhydroxybutyrate

they inhibit HMG-CoAreductase

inhibits acetylaldehyde
dehydrogenase
How does FA enter the
cytosol?
How does FA enter the
mitochondria?
How does lead affect heme
synthesis?
How does the brain
metabolize ketone bodies?
via citrate shuttle
via the carnitine shuttle
inhibits ALA dehydratase andferrochelatase preventsincorporation of Fe
to 2 molecules of acetyl coA
How is bilirubin removed
from the body?
How is ethanol metabolized?
How is FA entering themitochondria inhibited?
How is glutamate convertedto a-ketogluturate
collected by liver, conjugatedwith glucuronate excreted inbile
ethanol oxidized to
acetylaldehyde by alcoholdehyd and NAD+
acetalaldehyde ox to acetateby acetylaldehyde and NAD+
by cytoplasmic malonyl-CoA
By the loss of amonium andreduction of NADP
How is glutamine convertedto glutamate?
How is heme catabolized?
How is LDL uptakeundergone?
How is most plasmacholesterol esterfied?
By the loss of amonium
scavenged from RBC's and Fe+2 is reused
by target cells throughreceptor-mediatedendocytosis
LCAT(lecethin-cholesterolacyltransferase)
How is NAD+ generally used
metabolically?

How is NADPH generally used

metabolically?

How is TCA regulated?

How many ATP's per acetyl

CoA?

catabolic processes
anabolic processes (steroidand FA synthesis), repiratoryburst, P-450
by need for ATP and supply ofNAD+
12
How many ATP equivalants
are needed to generate

6
glucose from pyruvate?
How many enzyme activitiesdoes pyruvate dehydrognase
3
possess
How many moles of ATP aregenerated aerobically through
36 ATP
G3P shuttle?
How many moles of ATP aregenerated aerobically through
38 ATP
malate shuttle?
How many moles of ATP aregenerated anaerobically?
In what tissue does heme
synthesis occur (2)?
Insulin mneumonic
Is Serum C peptide presentwith exogenous insulinintake?
2 ATP

liver and bone marrow

insulin moves glucose intocells
No
Kwashikor results from a
Malabsorption, Edema,
protein deficient MEAL
Anemia, Liver (fatty)
(mneumonic)
Mnemonic for
gluconeogenesis irreversible
enzymes?

Pathway Produces Fresh

Glucose

Mnemonic for SAM.

SAM the methyl donor man
Name 6 common products of
glucose, lactate, Acetyl CoA
pyruvate metabolism?
+CO2, OAA, Alanine
Name the activated carriers
with associated moleclues
tetrahydrofolates(one carbon units).
phosphoryl
ATP
T/F. Uncouplers stop ATP
FALSE
production?
Underproduction of heme
microcytic hypochromiccauses what anemia?
anemia
What AA are required during
Arg and His
periods of growth?
What are clincial syndromes
xanthomas, atherosclerosis
of this disorder?
homozygotes MI by age 30
What are major pathways
most including
occur in the liver (8)?
gluconeogenesis, etc.
What are the activators of
cAMP, and calcium ion
glycgenolysis?
What are the cofactors of
pyrophosphate, lipoic acid,
pyruvate dehydrogenase (5)?
CoA, FAD and NAD
What are the components of a
TG, FFA and apo E
cholymicron remnant?
What are the components of a
TG, apo C-II, apo E, B-48,
cholymicron?
apo A
What are the components of
less TG, CE, B-100 and E
IDL?
What are the components of
CE and B-100
LDL?
What are the components of
VLDL?

What are the degradation

product steps (3)?

What are the effector

hormones of cholesterol
synthesis?

TG, Cholesterol ester, B-100,

CII and E

heme to biliverdin to bilirubin

insulin increases, glucagon

decreases
What are the effector
decreased glucagon and
hormones of glyc and pyr ox?
increased insulin
What are the effector
insulin decreases, epi and
hormones of glycogenolysis?
glucagon increases
What are the effector
insulin increases, glucagon
hormones of lipogenesis (2)?
decreases
What are the electron
rotenone, antimycin A, CN-,
transport chain inhibitors?
CO
What are the essential
glucogenic/ketogenic AA?
What are the essential
gluconeogenic AA?
What are the essential
ketogenic AA?
What are the irreversible
enzymes of gluconeogenesis(4)?
Ile, Phe, Try
Met, Thr, Val, Arg, His
Leu and Lys
-pyruvate carboxylase, -PEPcarboxykinase,-fructose-1,6bisphosphotase,
-glu-6phosphotase
-glucokinase/hexokinase,

What are the irreversible

PFK,-pyruvate kinase,

enzymes of glycolysis (4)?

pyruvate dehdrogenase
What are the main substrates
-glucose, -lipoprotein
used by adipose tissue (2)?
triacylglycerol
What are the main substrates
used by brain?

-glucose, -aa and ketone

bodies when starved, polyunsat
FA in neonates

FFA, -some glucose, -lactate,

What are the main substrates
-ketone bodies, VLDL and
used by heart?
cholymicrom triacylglycerol
What are the main substrates
FFA, -glucose, -lactate,

used by liver?
glycerol, fructose, -AA
What are the major activators
of gluconeogenesis?

What are the major activators

of glycolysis and pyruvate
oxidation?

Acetyl CoA for pyruvatecarboxylase and cAMP for PEPcarboxykinase and F-1,6bis-
P
AMP, fructose2,6-bis-P,
fructose 1,6-bis-P in muscle,
CoA, NAD, ADP and pyruvate

What are the major metabolic

- esterfication of FA's -
pathways of the adipose
lipolysis
tissue (2)?
What are the major metabolic
-glycolysis,-aa metabolism
pathways of the brain (2)?
What are the major metabolic
Aerobic pathways like B
pathways of the heart?
oxidation and TCA cycle
What are the major products
-FFA, -glycerol
of the adipose tissue (2)?
What are the major products
lactate
of the brain?
glucose,-VLDL,-HDL,-ketone
What are the major products
bodies,-urea,-uric acid, -bile
of the liver (10)?
acids, -plasma proteins
What are the major regulatory
enzymes of gluconeogenesis
(3)?

What are the major regulatory

enzymes of glycolysis and
pyruvate oxidation?

pyruvate carboxylase, PEP

carboxykinase and F-1,6bis-
P

PFK and pyruvate

dehydrogenase

What are the major regulatoryenzymes of cholesterol

HMG-CoA reductase
synthesis?
What are the products of the
liver in the fasting state?

What are the products of the

liver in the fed state?

What are the products of the

TCA cycle?

What are the some causes of

hyperbilirubinemia (4)?

glucose and ketone bodies

glycogen and fats/VLDL
3NADH, 1FADH2, 2CO2,1GTP per Acetyl CoA
massive hemolysis, -block incatabolism, -diplaced frombinding sites on albumin,
decreased excretion
conjugated (direct/
What are the sources of
glucuronidated) andhyperbilirubinemia (2)?
unconjugated(indirect/
insoluble)
What are the specialist
-lipoprotein lipase, and wellenzymes of muscle (2)?
developed resp chain
What are the specialist
-lipoprotein lipase,-hormone
enzymes of the adipose
sensitive lipase
tissue (2)?
-lipoprotein lipase,

What are the specialist

respiratory chain well-
enzymes of the heart (2)?
developed
What are the specialist
enzymes of the liver?

What are the three sites in the

electron transport chain for
active proton transfer?

-glucokinase,-glu-6phosphotase,-
glycerolkinase, -PEP carboxykinase, fructokinase,-
arginase,-HMGcoA synthase and lyase, -7ahydroxylase

NADH dehydrogenase, Cyt b/

c1, and cytochrome oxidase
aa3

What can occur as an excess

pancreatitis, lipemia retinalis
of cholymicrons (3)?
and eruptive xanthomas
What can occur as an excess
pancreatitis
of VLDL?
What catalyzes cholymicronto cholymicron remnant?
What catalyzes IDL to LDL?
What catalyzes VLDL to IDL?
What causes a hangover?
lipoprotein lipase
hepatic TG lipase
lipoprotein lipase
acetylaldehyde accumulates
What color is bilirubin and
what is the condition of
excess?

What complex is pyruvatedehydrogenase similar to?

What do LT c4, D4 and E4 do(4)?
What does breath smell like
during ketoacidosis?

yellow, jaundice

a-ketogluturatedehydrogenase complex
bronchconstriction,
vasoconstriction, contractsmooth muscle, increasevascular permeability
fruity(acetone)
What does excess LDL cause
atherosclerosis, xanthomas,
(3)?
and arcus corneae
What does oligomycin do to
ETC?

ATPase inhibitor that

increases proton gradient but
not ATP production

What does PGI stand for?

platelet gathering inhibitor
thromboxanes,
What does the COX pathway
prostaglandins and
yield?
prostacyclin
What does the lipooxygenasepathway yield?
What does this stand for?
What enzyme catalyzes therate limiting step ofcholesterol syn.?
What induces the PPP?
leukotrienes
Ornithine, citrulline,
carbamoyl-p, aspartate,
arginosuccinate, fumurate,
arginine, urea
HMG-CoA reductase
insulin
What is a major component ofatherosclerotic plaque?
What is an uncoupling agentto the ETC?
What is cofactor required formethionine (SAM)
regeneration?
What is does PGI 2 inhibit (2)?
modified LDL

2,4 DNP (dynamite)

vitamin B12
platelet aggregation and
vasodilation
What is familial hypercholesteremia?

What is Kwashikor?
What is LT B4?
What is Marasmus?

AD genetic defect in LDL

receptor

protein malnutrition

neutrophil chemotactic agent

Protein-calorie malnutrition
resulting in tissue wasting
What is the activator of
lipogenesis?

What is the activator of PPP?

What is the clinical picture of

Kwashikor?

What is the committed step of

heme synthesis?

Citrate
NADP+

small child with swollen belly

glycine+succ CoA to deltaaminolevulinate
What is the composition of
ATP?

What is the consequence ofaccumulated intermediates of

heme synthesis?
What is the easy way toremember the cofactors of
PDH complex?
What is the effector hormone
for glycogenesis?

Base(adenine), ribose, 3phosphoryls

porphyrias
First 4 B vitamins + lipoicacid
Glucagon
What is the energy content ofthe 2 phosphoanhydride
7 kcal/mol eachbonds?
What is the functiion of HDL
(2)?

transfers cholesterol from

periphery to liver acts as a
repository for apoC and apoE

What is the functioin of

FA uptake to cells from
lipoprotein lipase?
choly's and VLDL's
What is the function of
rate limiting step of heme
aminolevulinate (ALA)
synthesis converts succinyl
synthase ?
CoA and glycine to ALA
delivers dietary TG to
What is the function of
peripheral tissues delivers
cholymicrons (2)?
dietary cholesterol to liver
What is the function of
degradation of stored TG's
hormone sensitive lipase?
delivers hepatic cholesterol to
What is the function of LDL?
peripheral tissues
What is the function of
liberates arachidonic acid
phospholipase A2?
from cell membrane
-produces ribose-5-P fromWhat is the function of PPP
G6P for nucleotide
(3)?
synthsesis,-producesNADPH,-part of HMP shunt
transfers methyl units to wide
What is the function of SAM?
variety of receptors
What is the function of the
Cori Cycle?

transfers excess reducingequivalants from RBC's andmuscle to liver to allow

muscle to function
anaerobically
What is the function of Tx A2
platelet aggregation and
(2)?
vasoconstriction
What is the function of VLDL?
What is the inhibitor of
lipogenesis (2)?
What is the inhibitor of PPP?
What is the limiting reagentof ethanol metabolism?
Delivers hepatic TG toperipheral tisssue
long-chain acyl-CoA, -cAMP
NADPH

NAD+
What is the main substrate of
glucose
fast twitch muscle?
What is the main substrate of
ketone bodies, -FFA,

slow twitch muscle?

triacylglycerol
What is the major function of
rapid movement
fast twitch muscle?
What is the major function of
sustained movement
slow twitch muscle?
What is the major function of
increase vascular smooth
the a1 receptor?
muscle contraction
What is the major function of
the a2 receptor (2)?

What is the major function of

the B1 receptor (5)?

-decrease sympathetic
outflow, -decrease insulin
release

increase HR, -inc.

conntractility, -inc. reninrelease,-inc. lipolysis, -inc.
aq. Humor formation
What is the major function of
vasodilation, bronchodilation,
the B2 receptor (3)?
inc. glucagon release
What is the major function of
relax renal vascular smooth
the D1 receptor?
muscle
What is the major function of
modulate transmitter release,
the D2 receptor?
esp. in brain
What is the major function of
the H1 receptor (4)?

increase mucous production,

-contract bronchioles, pruritis,
-pain

What is the major function of

increase gastric acid secretion
the H2 receptor (4)?
What is the major function of
service for the other organs
the liver?
and tissues
What is the major function ofthe M1 receptor?
What is the major function ofthe M2 receptor?
What is the major function ofthe M3 receptor?
CNS

decrease heart rate

increase exocrine gland
secretions
What is the major function of
increase vascular smooth
the V1 receptor?
muscle contraction
What is the major function of
the V2 receptor?

What is the major inhibitor of

glyc and pyr ox?

increase water permeability

and reabsorption in the renal
collecting tubules

citrate (FA and ketone bodies)

ATP and cAMP, -acetyl CoA,
NADH, ATP

What is the major inhibitor of

ATP, long-chain acyl-coA
TCA?
What is the major inhibitor of
cholesterol and cAMP
cholesterol synthesis (2)?
What is the major inhibitor of
ADP and AMP and F-2,6-bisglycogenesis?

P
What is the major metabolicpathway of fast twitch
glycolysismuscle?
What is the major metabolic
Aerobic pathways like B
pathway of slow twitch
oxidation and TCA cycle
muscle?
What is the major product of
lactate
fast twitch muscle?
What is the major product ofslow twitch muscle?
What is the major regulatoryenzyme of glycogenolysis?
What is the major regulatoryenzyme of lipogenesis?
lactate
glycogen synthase
acetyl CoA carboxylase
What is the major regulatoryenzyme of pentosephosphate pathway (PPP)?
What is the major regulatoryenzyme of TCA?
What is the mechanism for
the ETC inhibitors?
What is the mechanism for
the ETC uncoupler?
glucose-6-P dehydrogenase
citrate synthase
directly block ETC, cause
decreased proton gradient
inc. membrane permeability,
decreases proton gradientand increases O2 consmption
What is the mechanism of
ethanol hypoglycemia?

What is the mnemonic for the

various substrates of the TCA
cycle?

NADH/NAD increases in livercauses diversion of pyruvateto lactate and OAA to mal

ate
inhibits gluconeogenesis andthus leads to hypoglycemia
Cindy Is Kinky So She
Fornicates More Often

What is the mneumonic for

PriVaTe TIM HALL
essential AA?
A-1 Activates LCAT B-100
What is the mneumonic for
Binds to receptor C-II is amajor apolipoproteins?
Cofactor for LPL E mediates
Extra (remnant) uptake
Ordinarily, Careless Crappers
What is the pneumonic for
Are Also Frivolous About
the Urea cylce substrates?
Urination
an intestinal intermediate
What is urobilinogen?
reabsorbed to blood and
excreted in urine as urobilin
What other physiological side
affect occurs by this
hypoglycemia?

fatty liver seen in chronic

alcoholics

What rxn does pyruvate

pyruvate+NAD+CoA goes to
dehydrogenase catalyze?
acetyl-CoA +CO2+NADH
What second messenger
adenylcyclase reduces cAMP
system does Gi work
levels and protein kinase A is
through?
reduced
What second messenger
system does Gq work
through?

What second messenger

system does Gs work
through?

phospholipase C, PIP2 to IP3and DAG DAG works throughprotein kinase C IP3 increa
sesIC calcium ion
adenylcyclase converts ATP to
cAMP to phosphorylate
protein kinase A

sparingly water soluble toxic

What some properties of
to CNS transported by
bilirubin (3)?
albumin
What step does this enzyme
HMG-CoA to mevalonate
work on?
What suppressesglycogenesis?
What tissues require insulinfor glucose uptake?
What type of metabolismoccurs in the both (3)?
insulin
adipose and skeletal muscle
-gluconeogenesis, -ureacycle, heme synthesis
glycolysis, -fatty acidWhat type of metabolism
synthesis, -HMP shunt, occurs
in the cytoplasm (5)?
protein synthesis (RER), steroid
synthesis (SER)
What type of metabolism
occurs in the mitochondria
(3)?

Beta oxidation, -Acetyl-CoA

production, -Kreb's cycle

When are ketone bodies

during prolonged starvation
formed (2)?
diabetic ketoacidosis
Where are basic AA found in
in Histones that bind to
high amounts?
negative DNA
Where are cholymicrons
small intestine
made?
Where are ketone bodies
liver
made?
Where does FA degradation
mitochondria, where it will be
occur?
used
Where does FA synthesis
cytosol
occur?
Where is ALA synthase found
mitochondria, heme
and what inhibits it?
Where is HDL secreted from
(2)?
Where is insulin made?
Where is NADPH generated?
liver and small intestine
B cells of pancreas
is a product of HMP shuntand the malate
dehydrogenase rxn
Where is SAM generated?
From ATP and methionine
Where is VLDL made?
Which ketone body isdetected in urine test (1only)?
Carbon monoxide has a
greater affinity for whatmolecule?
liver
acetoacetate
CO has 200x greater affinity
for hemoglobin than for
oxygen
hemoglobin is composed of 4
Describe the subunits for
polypeptide subunits (2 alpha
hemoglobin?
and 2 beta)
During the cycle of the
phosphorylated
sodium pump, it is __.
How are enzymes regulated?

How does calcium cause

skeletal muscle contraction?

1. enzyme concentrationalteration (syntesis and/ordestruction) 2. covalentmodifi

cation (eg.
phosphorylation) 3. proteolyticmodification (zymogen) 4.
allosteric regulation (eg. feedbackinhibition) 5. transcriptionalregulation (eg.
steroid hormones)
Ca2+ -> activates troponin-> moves tropomyosin &
gt; exposes actin-biningsite -> allows actin-
myosin interaction
How does calcium cause
smooth muscle contraction?

How does procollagen

molecules become collagen
fibrils?

How is CO2 transported from

tissue to lungs?

How is collagen fibillar

structure reinforced?

Ca2+ -> binds tocalmodulin because smooth

muscle doesn't have
troponins!
procollagen molecules cleavedat terminal regions bypeptidases to become insolubl
etropocollagen, which aggregatesto form fibrils procollagen
molecules are exocytosed intoextracellular space, where thisprocess occurs
-binds to amino acids in
globin chain (at N-terminus),
not to heme - favors T form
of Hb (thus promotes O2unloading)
by the formation of covalentlysine-hydroxylysinecrosslinks between
tropocollagen molecules
How is hemoglobin structure
regulated?

increased Cl-, H+, CO2, DPG,

and temperature favor T form(low affinity of O2)--shiftingthe dissociation curve
to the
right, leading to increased O2unloading
Most cells are in which cell
G0
cycle phase?
On what cellular stuctures are
flagella, cilia, mitotic spindles
microtubules found?
On which cells is
phosphotidylcholine (lecithin)
a major component?

- RBC membranes - myelin -

bile - surfactant (DPPC-dipalmitoylphosphatidylcholine)
- alsoused in the esterification of
cholesterol
Only the cytoplasmic side of
glycosylated lipids or proteins
membrane contains what?
The lower the Km, the(higher/lower/remains same)
higherthe affinity
What are the 2 forms of
hemoglobin?

What are the cell cycle

phases?

-T (taut) form has low affininty foroxygen - R (relaxed) form has 300xhigher aff
inity for oxygen Hb exertspositive cooperativity and negativeallostery, accounti
ng for thesigmoid-shaped O2 disassociationcurve (which myoglobin doesn't have)
[Hint: When you're RELAXED, you doyour job better (carry more O2)]
Mitosis (ProphaseMetaphase-
Anaphase-
Telophase) G1 (Gap orGrowth) S (Synthesis of DNA)
G2 (Gap or Growth) G0(quiescent G1 phase)
What are the characteristics
of a microtubule?

What are the characteristics

of competitive inhibitors?

What are the characteristics

of noncompetitive inhibitors?

-cylindrical structure 24nm india and variable length - helicalarray of polymeri

zed dimers ofalpha- and beta-tubulin (13 percircumference) - each dimer has2 GTP
bound - grows slowly,
collapses quickly - involved inslow axoplasmic transport inneurons
-resemble substrates - bind
reversibly to active sites ofenzymes - high substrateconcentrations overcomes
effect of inhibitors - Vmax
remains unchanges - Kmincreases compared tounhibited
- doesn't resemble substrate -
bind to enzyme but notnecessarily at active site -
inhibition can't be overcome byhigh substrate concentration -
Vmax decreases - Km remains
unchanged compared touninhibited
What cell cycle phases are
G1 and G0
variable in duration?
What drugs act on
microtubules?

What drugs inhibits the

sodium pump?

What is methemoglobinemia?

What is the difference

between collagen fibril and
collagen molecule?

-mebendazole/
thiabendazole (antihelmintic)
-taxol (anti-breast cancer) -
griseofulvin (antifungal) cholchicine
(anti-gout)
-Ouabain inhibits the pumpby binding to the K+ site -
cardiac glycosides (digoxin,
digitoxin) also inhibit thepump, causing increasedcardiac contractility
blood disorder where
methemoglobin, an oxidizedform of hemoglobin (ferric,
Fe3+) that does not bind O2as readily. Iron in Hb isnormally in a reduced state(
ferrous, Fe2+)
fibril is made of molecules
collagen fibril--many
staggered collagen moleculeslinked by lysyl oxidasecollagen molecule--3collagen
alpha chains, usuallyof Gly-x-y (x and y = pro,
OH-pro, or OH-lys)
What is the first step in
forming collagen from prolyland lysyl residues? Wheredoes it occur? What nutrien
t
does it require?
What is the plasma
membrane composition?

hydroxylation endoplasmic
reticulum vitamin C

-cholesterol (~50%,
promotes membrane stability)
- phospholipids (~50%) -
sphingolipids -glycolipids proteins
What is the sodium pump?
Na-K ATPase
What molecules, how many ofthem, and in what directionare moved across the
3 Na go out and 2 K go inmembrane by the sodiumpump?
on the membrane, with theWhere is the sodium pump?
ATP site on the cytoplasmicside of the pump
Which cell cycle phase is
rapidly dividing cells have a
shorter in rapidly dividing
shorter G1 phase
cells?
Which cell cycle phase is
mitosis
usually shortest?
Arthralgia's, fatigue,
headaches, skin changes,
sore throat, alopecia are

Vit A (Retinal)
symptoms foundin what
vitamin deficiency
How does sarcoidosis cause
hypercalcemia?

in sarcoid, epitheliodmacrophages convert vitaminD into it's active form leading

to increased absorption ofcalcium
How many ATP are made
Niacin=NAD niacin is B3=3
from Niacin
ATP
What are the characteristic
findings seen in Riboflavin
deficiencies

Riboflavin is B2 2
C's=cheilosis and Corneal
vascularization and also
Angular stomatitis
What are the fat soluble
D,A,K,E
vitamins
What are the findings in Vit D
Hypercalcemia, loss of
excess?
appetite, stupor
What are the possible causes
of hypercalcemia?

What are the signs and

symptoms of vit B12
deficiency?

1. Vit D intoxication 2.
Malignancy 3.
Hyperparathyroidism 4. Milk-
alkali syndrome 5.
Sarcoidosis 6. Paget's diseaseof bone
1. Macrocytic megaloblasticanemia 2. Neurologicsymptoms-optic neuropathy,
subacute combined
degeneration 3. glossitis
What are the signs of Biotin
dermatitis, enteritis
deficiency and what are
antiobiotic use and ingestion
possilble causes?
of raw eggs
What are the signs of Folate
deficiency?

What are the symptoms in Vit

B5 deficiency

What are the symptoms of

Pellagra

What are the usual causes of

Vit B12 deficiency?

Macrocytic megaloblasticanemia sprue

dermatitis, enterititis,
alopecia, adrenal insufficiency
3 D's Diarrhea, Dermatitis,
Dementia, and also Beefyglossitis
1. Malabsorption- Sprue,
enteritis, Diphyllobthriumlatum (Dr. Lohr's fish
tapeworm) 2.lack of intrinsicfactor (pernicious anemia) 3.
Absence of the terminal
ileum- Crohn's disease or
surgery
B complex vitamins
What are the water soluble
(B1,2,3,5,6,12), Vit C, Biotin,
vitamins
Folate
What can induce pyridoxine
INH and oral contraceptivesdeficiency? Symptoms?
convulsion, hyperirritability
What clotting factors are Vit Kdependent and what anti-
Factors II, VII, IX, X and
clotting drug acts as a Vit K

Protein C and S Warfarin

antagonist?
what disease is characterized
by polyneuritis, cardiac
Beriberi (Ber1BerI), due to Vitpathology and edema and
B1 deficiency
what is the cause
What diseases conditions are
Rickets in kids Osteomalacia
caused by Vitamin D
in adults hypocalcemic tetany
deficiency?
What diseases is caused by
Vit C deficiency and what are
the findings?

What is B12 used for in the

body?

Scurvy swollen gums,

bruising, anemia, poor wound
healing

Cofactor for homocysteine

methylation and
methylmalonyl-CoA handling

What is Niacin's function in

part of NAD, NADP and is
the body and from what can it
derived from tryptophan
be derived
What is the active form of
1,25 (OH)2 D3 = active form
Vitamin D?
What is the alternate name of
niacin Pellagra Hartnup
Vit B3, problems in
disease, malignant carcinoid
deficiency, common cause of
syndrome, and INH
defieciency
What is the alternate name of
vitamin B1 and what are the
characteristic diseases of it's
deficiency
Beriberi and Wernicke-
Korsakoff syndrome

What is the folic acid

PABA is the precursor sulfa
precursor in bacteria and
drugs and dapsone are PABA
what antibiotics exploit this
analogs
fact?
What is the form of vitamin D
consumed in milk?
What is the form of Vitamin D
found in sun-exposed skin?
What is the function and
alternate name of Vit. B2
What is the function of Biotin?
D2 = ergocalciferol
D3 = cholecalciferol
cofactor in oxidation and
reduction (FAD,FMN)
RiboFlavin
Cofactor for carboxylations 1.
Pyruvate to oxaloacetate 2.
Acetyl-CoA to malonyl Co-A3. Prprionyl-CoA tomethylmalonyl-CoA
What is the function of folic
acid?

What is the function of Vit A,

it's alternate name, and
symptoms in deficiency

What is the function of Vit B1

What is the function of Vit B6

coenzyme for 1-carbontransfer;methylation reactionsimportant for the synthesis o

fnitrogenous bases in DNAand RNA
visual pigments (retinal)
retinol night blindness and
dry skin

it becomes Thiamine
Pyrophosphate (TPP) and isused in: oxidative
decarboxylation of Alpha-
keto acids (pyruvate, Alpha-
ketoglutarate cofactor fortranketolase in the HMP shunt
B6 (pyridoxine) is convertedto pyridoxal phosphate acofactore in transamination
reactions (ALT & AST),
decarboxylation, and transsulfuration
antioxidant; especially inErythrocytes where it protects
What is the function of Vit E?
them from hemolysis Vit E isfor Erythrocytes
What is the function of
vitamin C?

1. Cross linking of collagen-

hydroxylation of proline andlysine in collagen synthesiskeeping iron in the Fe2+
reduced state making it moreabsorbable 3. Cofactor for
coverting dopamine tonorepinephrine
What is the function of
increase intestinal absorption
Vitamin D?
of Calcium and phosphate
What is the function of
Vitamin K?

catalyzes gamma-
carboxylation of glutamicacid residues on various
proteins concerned withclotting.
What is the most common
vitamin deficiency in the
Foilic Acid
United States?
What is the rule of 2's for Vit
B2

What is the sotrage form of

Vitamin D?

What is the source of Vit B12

and what is B12's other name

2 F's, 2C's and 2ATP 2

F's=FAD&FMN 2 C's =
signs of deficiency cheilosis
and corneal vascularization
oxidation of FADH2 leads to 2
ATP
25-OH D3

found only in animal productscobalamin

What is vit B5's function and
alternate name

constituent of CoA, part offatty acid synthase. Cofactorfor acyl transfersPantot

henate (Pantothen-A isin Co-A)
What manifestation is specific high output cardiac failureto wet beriberi?
(dilated cardiomyopathy)
What molecule in egg white
binds up Biotin and causes
Avidin
deficiency
Neonatal hemorrhage withincreased PT increased aPTT,
but normal bleeding time in
What problems do you see in
general, mild vitamin k
Vit K deficiency?
deficiency will prolong PT and
have normal PTT severe
deficiency will prolong PT and
PTT
What scenerios are vit B
alcholism and malnutrition
defieciencies often seen in
What test is used to detect
Schilling test
B12 deficiency
What two general types of
Malabsorption syndromes
things will cause fat soluble
( cystic fibrosis and sprue)
vitamin deficiency
and mineral oil intake
What vitamins more
fat soluble vitamins b/c these
commonly cause toxicity and
accumulate in fat
why
What water soluble vitamin
B12 which is stored in the
does not wash out easily from
liver
the body
What will a defieciency in Vit E
Increased fragility of
lead to?
erythrocytes
Where is B12 synthesized and
stored

synthesized only in
microorganisms stored
primarily in liver

synthesized by ntestinal flora

Where is Vit K synthesized
prolonged broad spectrum
and what is one cause of Vit K
antibiotic use can kill off the
deficiency?
flora can cause a deficiency