45 NOTES TO PG

Dr. Ankit Yadavendra, M.B.B.S., Dr.V.M.G.M.C., Solapur

06-GENETICS
chromosome-ds
1-neuroblastoma, presenilin, Rh
1q-Gaucher ds, NPHS2(podocin)
2P-HNPCC synd(MLH1, MSH2,6, PMS1,2)
3-BPES synd(FOXL), rod
3p-adrenocortical ca, VHL synd
3Q-alQaptonuria
4-ADPKD4
4p-Huntington ds
5p-cri du chat synd
5q-FAP, bronchial asthma
6-myoclonic sz
6p-HLA, hered hemochromatosis(HFE)
7-blue cone(tritanomaly)
7q-cystic brosis(CFTR-1480AA), Pendred synd(PDS, prot-pendrin), heredit
pancreatitis(PRSSI)
9-Friederich ataxia, tuberous sclerosis(TSC1, prot-hamartin)
9P-ABO bld grPing
10-RET protooncogene, Cowden synd(PTEN)
11-Alz ds, Best ds
11p-thalass(missens mutat), Wilms tm(WT1), Beckwith Wiedemann synd
11q-sickle cell anem, a/c intermit porphyria, oculocut albinism, ataxia
telangiectasia(ATM), intrinsic factor
12p-von Willebrand ds
12q-phenylketonuria
13q-retinoblastoma(Rb), Wilson ds(ATP7B), BRCA2, CLL
14-HCM, presenilin
14q-1 antitrypsin def
15q-developm of diaphr, Marfan synd(FBNQ, prot-extracell glycoprot brillin1), Tay
Sach ds
16-tuberous sclerosis(TSC2, prot-tuberin)
16P-ADPKD, alP thalassemia
17-von Gierke ds
17P-P53, Charcot Marie Tooth ds
17q-NF1, BRCA1
18q-DCCgen(ca stom), DPCgen(ca panc)
19-Mullerian inh h, apoE4(risk Alz ds), familial migraine(P/Q Ca ch)

19P-familial hyPercholesterolemia
19q-PJ synd(STK11,LKB1), NPHS1(nephrin)
20-keratoconus(MIR184/VXSI)
20P-Prion Prot
20Q-McQne Albright synd(GNAS1, prot -Gprot stimulat subunit)
21-APP
21q-vitB9 transport gene
22-CML
22p-Hurler synd
22q-NF2, cat eye synd, metachromatic leukodystrophy, Digeorge synd(no class
switching)
Yp-SRY(113)
Autosomal DOMiNANT
a/c intermittent porphyria
achonDroplasia
AnDerson Tawil synd
angioneurotic eDema
APCKD
BesT ds
bn essential Tremor
BPES synd
brachyDactyly
Bullous Cong Icthyosiform ErythroDerma (BCIE)
Charcot Marie Tooth ds
corneal Dystrophy(b/l)
CowDen synd
CrouzoN synd
Dariers ds/keratosis follicularis
Diaphysial aclasia(multiple exostosis)
Dowling Degos ds
Ehlers Danlos III
erythrOpOeitic pOrphyria
FAP
fAmiliAl kerAtosis pAlmAris/plAntAris(tylosis)
broNectiN Nephropathy
GorDon synd
HCM
hereDitary amyloidosis
hereDitary elliptocytosis
hereDitary pancreatitis
hereDitary spherocytosis
Hermansky PuDlak synd

HuNtiNgtoN chorea
hypercholesterOlemia
hyperkalemic PP
hypOkalemic PP
icthyOsis vulgaris
LiDDle synd
liFraumeNi synd
LyNch synd
marble bONe/Albers SchONberg ds/osteopetrosis
MarfaN synd(brillin I)
MilrOy ds(lymphOeDema congenita)
MODY
myOtOnic DystrOphy
neurObrOmatOsis
NOOnan synd(PTPN11)
Osler Weber RenDu synd(hereDit hgic telangiectasia)
OsteOgenesis imperfecta(I-IV)
OtOsclerOsis
paramyOtOnia cOngenita
Pelger HueT anom(hyposegmented neutropenia)
PeuTz Jeghers synd
piebaldism(KIT protooncogene)
polyDactyly
porphyria cutanea tarDa
retinOblastOma
rOlling hiatus hernia
tritaNOmaly
tuberOus sclerOsis
VHL synd
vOn Willebrand ds One,twO
WerNer(MEN1) synd
Wilms tm
Autosomal RECESSiVE
albiniSm
alkaptonuRia
1 antitRypsin def
Alport synd
ataxia telangiECtasia
BARter synd
CAH
CARoli ds
Chediak HigaShi synd(LYST, prot-LYSosomal Trafcking regulator)

cong eRythRopoeitic poRphyRia

cong muscul dystRophy(prot-merosin)
cystic bRosis
cystinosis
cystinuRia
fact VII def
familial glucocoRticoid def
Fanconi anem
FRiedRich ataxia
galactoSSemia
GittElman synd
glycogen storage ds(vonGierke ds, Tay Sach ds)
hemochRomatosis
hemophilia C(fact XI def)
HiRschspRung ds
homocystinuRia
HuRler synd
ImeRslund GRasbeck synd(cong vitB12 malabsorption)
KARtagener synd
KoStmann synd
lysosomal storage ds(Gaucher ds)
maculAR corneal dystrophy
metachromatic leukodystrophy
myeloperoxidase def
neonatal pulm alveol proteinosis(SBP)
Pendred synd
phenylketonuria
Polyglandul AutoImmun synd(APECED)
pyRuvate kinase def
Refsum ds(PHAX)
Scheibes dysplasia
Scheie synd
Shwachman synd
Sickle cell anemia
StARgARdt ds
thalaSSEmia
von Willebrand ds thREE
WeRdnig Hoffman ds
Wilson ds
Wolman ds(LIPA)
xanthinuRia
xerodeRma pigmentosum

X dominant
Aicardi synd
Fabry ds
familial hypophosphatemic vitD resist rickets(PHEX)
Goltz synd
incontinentia pigmenti
orofaciodigital synd
urea cycle defect due to OTC def
Rett synd(HECP2)
X recessive
adrenoleukodystrophy(ABCD1)
BeckerMD(prot-dystrophin partial def)
Brutton agammaglobulinemia
c/c granulomatous ds
colour blindness(green, red)
Digeorge synd
Dent ds(CLCN5)
DMD(prot-dystrophin)
Emery DreifussMD(prot-emerin)
fragile X synd
G6PD def
hemophilia A(fact VIII)& B(fact IX)
Hunter synd(axe)
hydrocephalus
Lesch Nyhan synd
Lowe synd(oculocerebrorenal ds)
ocular albinism
placental sulfatase def
retinitis pigmentosa
testicular feminizing synd
Wiscott Aldrich synd(prot-WASP)
Mitochondrial
Leber hereditary neuropathy
MELAS
Merras ds
mitochondrial myopathy
Kearns Sayre
Leigh ds
NARP(Neuropathy Ataxia Retinitis Pigmentosa) synd
codominance

ABO bld grp

HLA
1 antitrypsin
Multifactorial inheritance
CAD
cleft lip
cleft palate
congHD
CTEV
DM
essential HTN
gout
mental retardation
pyloric stenosis
schizophrenia
transformation
tranfer of gene by naked DNA(come out after bacterial lysis)
knock out technology-knockout mouse, suppression of norm allele
rDNA techn-transformation
Grifth-type II noncapsulat Str pneum capsulat Str pneum
transduction
transfer of gene by bacteriophage(DNA virus)
generalised-d/t lytic phage, error in packaging, homologous recombinat, every gene
has equal chance of transfer
lysogenic-new character to bact, homologous recombination
C diphtheriae, phage(tox gene), grp A Str(A, C-phage encod, B-chrom encod), V
cholerae, Cl botulinum, Salmonella(S anatum S newington, O10 O15)
temperate/lambda phage-insert b/n gal&biotin gene, error in excision, homologous
recombinat, sp gene transferred
conjugation
transfer of gene by plasmid
F+-plasmid present(tra,oriT)
F-plasmid absent
HFr-chromosome with tra(transfer fact), oriT(origin of Transfer)
F'-part of plasmid on chromosome
F+F conjugation
HFrF conjugation
F'F conjugation
R plasmid=R(Resist determinant)+ RTF(Resist Transfer Factor)

transposon(mobile genetic element)

oligonucleotide strand with complimentary end carry gene(new trait/character)
move cut paste manner(jumping gene)
insertion is without complimentation bind to intron
insertion sequence
oligonucleoti strand+ complement end
no gene(phenotypic silence)
smaller than transposon
insertion without complimentation
genotyping
fnal unit genome-gene sp prot
unit of genet express-cistron subunit of prot(1polypeptide)
purine(A,G) xanthine uric acid
synth
Gly-C4,5,N7
Asp-N1
glutamine-N3,9
THF-C2,8
CO2-C6
salvage-brain, RBC, neutrophil
de novo-liver
pyrimidine(C,U,T)
end prod
Ala, NH3, CO2, p-aminoisobutyrate
synth
glutamine-N3
Asp-C4,5,6,N1
CO2-C2
best radiolabel marker DNA replication-thymidine(bromodeoxyuridine)
any genetic material-sugar in form
nitrogenous base cant be incorporated in any nucleic acid
NB+S nucleoSide
NB+S+P nucleotide
DNA glycoSylase cut-NBS bond
nucleas cut-phosphodiester(3',5') bond
5'exonuclease cut-5' 3'

3'exonuclease cut-3' 5'

DNA(6type)
Hoogstein DNA-triple helix, extra strand I-bond H2(Hoogstein)
A DNA-Anhydrous DNA, rt handed, 11BP/turn
B DNA-rt handed, 10BP/turn
C
D
E
Z DNA-Zigzag DNA, lt hand, 12BP/turn, favored by alternate GC band
chromatin=50%DNA+ 50%histone
Condensed, Heterochromatin, transcriptionally Inactive
Relaxed, Euchromatin, transcriptionally Active(CHIREA)
chROmatin condensat, longest, exchange of genet material-pROphase I
BaRR body-inteRphase
karyoType-meTaphase
nucleosome
prim struct unit of chromatin
DNA+prot histone(basic, Lys,Arg-H1,2A, 2B,3,4)
histone octomer=2(H2A,2B,3,4)
nucleosome core=octomer+ DNA helix wound twice
chromatosome=nucleosome+H1
chromatin/polynucleosome=series of nucleosome
epigenomics-study of alteration in chromatin& histone prot& methylat of DNA seq
that influence gene expression
histone modication
rxn-phosphorylation, dephosphorylation, methylation, demethylation, acetylation(at
Lys residue at NH2 terminal-activat histone), deacetylation
but nO-histone glycOsylation
method of gene delivery
chemical base transfection
CaPO4, cationic poymer, dendrimer, liposome
nonchemical method(HOSI)
Hydrodynamic deliver, Optical transfection, Sonoporation, Impalefection
particle base method
gene gun, magnetofection

cloning vector
adenovirus, HPV, retrovirus(MC), plasmid, bacteriophage, cosmid, BAC(Bact Artif
Chromosome), YAC(Yeast Articial Chromos, most powerful), liposome(lipoplex)
molecular cloning
blue white screening-identify desired chromos DNA inserted in plasmid vector
RNA(rmt)
rRNA(80%)-RNA polymerase I, synth in nucleoli
mRNA(5%)-short lived, most heterogenous, gene duplication, polyA tail protect 3' end
fr enzymat destruct, RNA polymerase II
tRNA(15%)-smallest, solubleRNA, sRNA, cloverleaf, hairpin struct, deliTy, unusual
NB, RNApolymerasIII, 3' 5'-Pseudouridine, Variable, Anticodon, D(PVAD)
clover leaf model-4arm
acceptor(3')-CCA-attachm for AA
D-Dihydrouridine
anticodon-anticodon
TC-ribothymidin(T), pseudouridin()
hnRNA-heteronuclearRNA form fr DNA by RNA polymerase II
RNAi-interfere with gene expression
miRNA(microRNA), siRNA(small interfering RNA)=20-30 nucleot RNA, bind with
mRNA& gene expression(mRNA translation)
snRNA-production of 3' correct sequence of histone mRNA
incRNA-barr body formation
mtRNA(mitochondrialRNA)(37gene)
rRNA-2gene
mRNA-13gene
tRNA-22gene
capping-5' 7methyl guanosine triP protect fr 5' exonuclease, initiate translation
Tailing-3'(Three') polyA(20-250nucleotide-polylysin) protect fr 3'exonuclease, help in
initiate translation
histone mRNA-U7 snRNA, no polyA tail
splisosome=snRNA+ SNURP(Small NUclear Ribosom Prot)(U1-U6, exceptU3),prim
transcript
splicing occur in nucleus, not in mitoch
SNURP mutat-thalassemia
transcription
no primer, no proof reading activity
prokaryote-single enzyme make all type of RNA
pribnow box seq, TATA seq-present on antisense/coding/nontemplate strand
sigma factor-identies pribnow box

rho factor-stop transcription

Template/Noncoding/Sense(TeNSe) strand-produce working mRNA
coding/antisense/nontemplate-same as mRNA except of T for U
eukaryotic transcription
cisacting element(TATAbox, GCbox, Hognas CATbox)-identif by transcript initiat
factor(transfactor)
TIF-identif by RNA polymerase II
termination-AATAAA f/b GT rpt
translation
Shine Delgarno seq(UAGGAGG), 6-10NB upstream of AUG for initiat of translat
reading mRNA-5' 3'
prokaryotic-AUG-formyl Met(formyl transferase)
eukaryotic-AUG-Met
Aacyl transferase-bind AA with tRNA
RNA synthetase-PRA
1AA=4ATP
translocation-prot elongation
mtDNA
UGA-Try
AGA,AGG-stop codon
AUA-Met
eukaryoticDNA
codon=61
AUG-start codon
UAA(ochre)-true terminal codon
UAG(amber)-pyrolysine(22ndAA)
UGA(opal)-Selenocystei(21StAA)(GAS)
DNA replication-anaphase, S phase, strand synth in 5' 3' direction, start at AT rich
reg
SSBP-prevent rehelixing
DNA ligase-bind Okazaki fragment
DNA topoisomerase
I-remove ve supercoil
II-prevent +ve supercoil, form ve supercoil
III-single strand break
IV-double strand break
DNA polymer Alp-lAgging strand synth

DNA polymerase bEt-rEpair synth

DNA polymerase gaM-Mitoc DNA synth
DNA polymerase zEt-lEading strand synth
DNA polymerase I-5' 3'polymerase, 5' 3'& 3' 5'exonuclease activity
DNA polymerase III-PRA, 5' 3' synth Okazaki fragm
DNA primase-initiat synth RNA primer
DNA helicase-unwinding of strand, bind at AT rich reg
monitor DNA denaturat-UV absorpt
Tm(melting temp,C)=2(no. AT BP)+ 4(n o. GC BP)
PCR-material required
2 primer
Taq polymerase(Thermus aquaticus DNA polymerase)
deoxynucleotide(dNTP)
target DNA fragment
buffer solution
divalent cation,Mg,Mn
monovalent cation,K
primer construction
denaturat-94C,10min
annealing primer-45C,1h
elongation-72C,variable min
uracil Nglycosylation(UNG)-prevent contamination
Real time PCR
SYBR green dye, molec beacon, Tag Man dye
reverse PCR-DNA amplication
DNA sequencing by Sangers techn-dideoxyribonucleotide
complication of gene therapy
genotoxicity
gene silencing
immunotoxicity
characteristic of genetic code
1-unambiguous/specic
1codon 1AA
2-degenerate/redundant
1AA1codon
codons with same AA-synonym
3rd nucleotide in codon less imp-3rd base degeneracy/wobbling phenom
3-universal

all organism have same genetic code

4-non overlapping
5-commaless
telomere
short rpt seq DNA at linear end chrom
protect DNA fr fusion& degradation
somatic cell-small sect no duplicat progressiv shorten signal cell cycle arrest
p53 depend cell cycle checkpt prolif arrest,apoptosis
germcell-telomerase(RNA dep DNA polymerase) nucleotide addition telomere
formation
cancer cell-telomerase reactivated
Hardy Weinberg law
relative freq of each gene tend to remain constant fr generation generation in
absence of force that change gene freq
condition
1-large populat
2-random mating
3-no mutat
4-no natural selection
5-no immigration/emmigration(gene flow)
insulin-pancr cell mRNA
lac operon model
E coli genome
3struct gene
Z-galactosidase
Y-galactoside permease
A-thiogalactoside transAcetylase
regulatory gene(lac i)
repressor prot
Promotor site(P)-binding site for RNA Polymerase
CAP-Catabolit Activat Prot binding site
RNA polymerase binding site
Operator site(O)-repressor bind& block transcription
genetic
pleiotrophism-single gene mutat cause many end effect
polymorphism-variation of DNA among populat without causing ds
heterogeneity-different mutation cause same ds

pedigree
all successive generation affected
yes dominan father to son transmission (present AD)(absent XD)
no recessive (only mal XR)(fem also AR)
recessive ds are 100%penetrated
karyotype
study of chr pictogram-idiogram
cell metaphase arrest(colchicine) separate chr(Giemsa stain) G banding
resolution=3.5-5kbp
short arm-p(petit), long arm-q
arrange size
largest chr-1
smallest chr-21>Y>22
submetacentric-X,2,4-12,17,18
acrocentric-Y,13-15,21,22
metacentric-1,3,16,19,20
telocentric-
A-1-3
B-4,5
C-6-12,X
D-13,14
E-16-18
F-19,20
G-21,22,Y
ring chromosome-del at both end
FISH(FluorescenceInSituHybridisation)
use-trisomy, monosomy, hyperploidy, hypoploidy, deletion, translocation,
amplication, gene localisation
advantage-small deletion(resolution), no metaphase req
disadvantage-unknown/new mutation cant be identied
FRAP(Fluorescenc Recovery After Photobleaching)-movement of prot fr nucleus
cytoplasm
base excision repair-defective NB removal by DNA glycosylase
MUTYH related polyposis
nucleotide excision repair-complete defective nucleotide removal by endonuclease
only on 1strand, req ligase&polymerase
xeroderma pigmentosum-non removal of T-T dimer by UV endonuclease
Cockayne synd

mismatch repair system-mismatch nucleotide removed fr new strand by-GATC

tracking system
HNPCC-defective DNA mismatch repair
Lynch synd
homologous repair defect
Werner synd
Bloom synd
Neijmegen breakage synd
Rothundthomson synd
nonhomologous end joining defect
SCID
ataxia telangiectasia-hypersensitive to UV radiation causing DNA damage-defective
DNA repair
Fanconi synd-hypersensensitive to DNA cross linking agent
locus heterogeniety-m dystrophy
chromosomal walking-cystic brosis(F508 mutation)
unfavourable lyonisation-Alport synd, fragile X synd
premutation-mutation but no ds-fragile X synd
anticipation-every generat ds become severe& early
Shareman paradox-sibling(9%), grandson(40%)
deletion
cri-du-chat synd(5p)
William synd(7q)
Digeorge synd(22q-DSG)
genomic imprinting(silencing of gene)
Silver Russel synd(7del)
Beckwith Wiedeman synd(11pdel)
Prader Willi synd(Paternal15qdel)
Angelman synd(matern15qdel)
trinucleotide rpt disord
FFHSSM-CGG GAA CAG CAG CAG CTG
Fragile X synd-CGG(FMR1)(oogenesis)
norm=6-55rpt
premutat=55-200rpt
mutat>200rpt
Friedreich ataxia-GAA(prot-frataxin)
HunTington ds-CAG(spermaTogenesi)
Spinobulbar muscular atrophy-CAG
Spinocerebellar ataxia-CAG
Myotonic dystrophy-CTG

mRNA editing
CAA (deaminat) UAA
Glu nonsense
B100 B48
prot-DNA interaction(motif)
helix turn helix
zinc nger
leucine zipper
helix loop helix
Punett squar-Predict genotyp offspring
bioinformatic database
prim nucleotide seq-GenBank
other nucleotide seq-UniGene, Genome Biology
prot seq-SWISS-PROT
prot seq motif-PROSITE
macromolecular-PDB
other-KEGG(Kyoto Encyclopedia Gene Genome)
oldest-uniPROT
risk of congHD
live birth=0.5-0.8%
premature infant=2%
stillborn=3-4%
abortion=10-25%
normal population=0.8%
1st relative=2-6%
2 1st relative=20-30%
Abbreviations
a-artery, AA-amino acid, abtc-antibiotic, AI-autoimmune
bef-before, bel-below, b/l-bilateral, bld-blood, b/n-between, bn-benign, br-branch,
Bx-biopsy
ca-carcinoma, carb-carbohydrate, c/i-contraindication, c/l-contralateral,
conc-concentration, cong-congenital, Cx-cervix
d-day, def-deficient, ds-disease, d/t-due to, Dx-diagnosis
E-estrogen
fem-female, fr-from
gld-gland, glu-glucose
h-hormone
idiop-idiopathic, i/l-ipsilateral, inf-infection, inj-injury
lig-ligament, LL-lower limb, l/t-leading to
m-muscle, maj-major, mal-male, MC-most common, met-metastasis, min-minor,

mtx-methotrexate, Mx-management
n-nerve, norm-normal
P-progesterone, pl-plasma, prot-protein, pt-patient
Rx-treatment
SCC-squamous cell carcinoma, sr-serum, Sx-surgery, sz-seizure
tm-tumour, ts-tissue
UL-upper limb, u/l-unilateral
vag-vagina, VC-vocal cord, vel-velocity, vert-vertebra, vit-vitamin, vol-volume
w-week, wt-weight
Xr-X ray
y-year
#-fracture
-degree
-(N.B.-THESE NOTES ARE ONLY FOR THE PURPOSE OF GUIDANCE AND HELP
TO PG ASPIRANTS, NOT FOR COMMERCIAL OR OTHER PURPOSE. REFERENCE
HAS BEEN TAKEN FROM VARIOUS STANDARD TEXTBOOKS. FOR ANY
FEEDBACK/QUERY PLEASE CONTACT- ankit.yadavendra@facebook.com or
dr.ankityadavendra@gmail.com )