1op|c Lecture # Date

Mende||an |nher|tance GL1 24]08]11

NonMende||an |nher|tance GL2 02]09]11
Inher|tance of uant|tat|ve tra|ts GL3 07]09]11
o|yp|o|dy |ant breed|ng GL4 14]09]11
A|| c|asses w||| start at 0930 AM
ut||ne of the sess|on
W Origin of Ccnciics
W Law of Dominancc and Scgrcgaiion - MonoIylrid cross
W Law of Indccndcni Assorimcni - DiIylrid cross
W Alicaiion of laws of Icrcdiiy Ccnciic disordcrs in Iumans
W Ecciions io Mcndclian InIcriiancc
Mende||an |nher|tance (GL1)
IGIN GLNL1ICS
W PlppocraLes durlng 400 8C lald foundaLlon for Lhe fundamenLals of heredlLy
W arLs of Lhe body produce seeds passed on Lo offsprlngs on concepLlon and
cerLaln LralLs make Lhem look llke Lhelr parenLs
W ,lcroscopes were lnvenLed and exlsLence of Sperms was reallzed ln 1677 by
AnLonle van Leeuwenhoek
W Sperms were LhoughL Lo be Lhe mlcromen (anlmalcules) whlch grow ln Lhe
moLher's womb ln Lo a baby and are lnfluenced ln Lhe womb Lo become a boy or
a glrl (SpermlsL's vlew)
W CvlsLs LhoughL LhaL egg ls responslble for Lhe producLlon of offsprlngs and
sperms [usL acLs as a sLlmulaLors
W Charles uarwln proposed angenes|s" suggesLs LhaL Lhe seeds coalesce and
produce offsprlngs of lnLermedlaLe appearance
W Assumed LhaL parenLs of conLrasLlng appearance would produce offsprlngs of
lnLermedlaLe LralLs
"ucsiions rcmaincd....
W Jhy do some chlldren look exacLly llke one of Lhe parenLs and some look llke
blend of Lhem?
W Jhy does puLaLlve blendlng of LralLs resulL ln obvlous dlfferences ln chlldren of
Lhe same parenLs?
W Jhy do some LralLs sklp generaLlons and Lhen reappear laLer?
W Jhy Lhe LralLs LhaL deLermlne gender are blnary?
IGIN GLNL1ICS
W regor ,endel an AusLrlan ,onk flrsL formulaLed Lhe fundamenLal laws of heredlLy
W ConducLed hls breedlng experlmenLs on arden pea (llsom sotlvom)
W ,endel observed seven LralLs LhaL are easlly recognlzed and occur ln one of Lwo forms
1 purple or whlLe flowers 3 yellow or green colored seed
2 Axll or Lermlnal poslLlon of flower 6 lnflaLed or consLrlcLed pod
3 long or shorL sLem 7 yellow or green colored pod
4 round or wrlnkled seed
W 8ecorded observaLlons verlfled and Lhen lnLerpreLed resulLs uslng robab|||ty theory
W roposed Lhree fundamenLal laws 1 Law of Dom|nance
2 Law of Segregat|on
3 Law of Independent Assortment
W ubllshed hls flndlngs ln 1he proceed|ngs of the 8runn Soc|ety of Natura| n|story# ln 1866
W regor ,endel's flndlngs and Lhen Lhe SuLLon and 8averl's chromosomal Lheory of lnherlLance
lald foundaLlon for Lhe parLlculaLe Lheory of heredlLy
nered|ty |nvo|ves reshuff||ng of factors from generat|on to generat|on
1he value and uLlllLy of any experlmenL are
deLermlned by Lhe flLness of Lhe maLerlal Lo Lhe
purpose for whlch lL ls used #
regor ,endel 1863
Iy !8:2 8,9;:2?
W Several physlcal characLerlsLlcs ln a
slngle planL
W 8equlres llLLle area Lo culLlvaLe large
number of planLs
W llower sLrucLure lnhlblLs naLural cross
polllnaLlon
W Lase of performlng maLlng experlmenLs
W Are Lrue breedlng and Lhe LralLs dld noL
vary beLween generaLlons
W eneraLlon Llme ls small
W Pybrlds are sLable and ferLlle
W 8esulL ln Lhe producLlon of large
number of seeds allowlng proper
sLaLlsLlcal analysls
unnett Square
unnett square ls a dlagram used Lo predlcL an ouLcome of a cross or breedlng
experlmenL
8? 8y r? ry
8? 88?? 88?y 8r?? 8r?y
8y 88?y 88yy 8r?y 8ryy
r? 8r?? 8r?y rr?? rr?y
ry 8r?y 8ryy rr?y rryy
arenLs ,ale 8r?y
lemale 8r?y
osslble comblnaLlons 8? 8y r? ry
8? 8y r? ry
8? 88?? 88?y 8r?? 8r?y
8y 88?y 88yy 8r?y 8ryy
r? 8r?? 8r?y rr?? rr?y
ry 8r?y 8ryy rr?y rryy
Genotype
henotype rat|o 9 3 3 1
MonoIylrid cross
henotype A|| 1a|| p|ants
henotype 1a|| I Short
uest|ons asked from these observat|ons
1 JhaL happened Lo Lhe short LralL ln Lhe l1 generaLlon?
2 Pow dld Lhe short planLs reappear ln Lhe l2 generaLlon when all
Lhelr l1 generaLlon parenLs were Laller?
3 Pow dld Lhe planLs ln Lhe l2 generaLlon onwards resulLed ln Lhe
producLlon of 1a|| and Short planLs aL a raLlo of abouL 31?
8epeaLed Lhese experlmenLs wlLh dlfferenL comblnaLlons of LralLs
and observed a slmllar ouLcome
now d|d he ana|yze |nterpret?
W Cne of Lhe Lwo LralLs from Lhe parenLs falled Lo appear ln Lhe l1 generaLlon buL
reappeared ln Lhe l2 generaLlon
W Llkely LhaL Lhe l1 generaLlon planLs had boLh Lhe LralLs alLhough only one of Lhe
LralLs was vlslble
W Concluded LhaL In a cross of parents that are pure for contrast|ng tra|ts on|y
one form of the tra|t w||| appear |n the progency" 1he LralL LhaL appears wlll be
Lhe Dom|nant LralL and Lhe one LhaL ls hldden wlll be Lhe ecess|ve LralL
W Applyled Lhe probablllLy Lheory Lo derlve a maLhemaLlcal model and asked what
|f these two factors (Dom|nant ecess|ve) were d|screte and comb|ned at
random dur|ng fert|||zat|on?
W Conslder LhaL Lhe l1 generaLlon carrles lnformaLlon for a domlnanL (1a|| 1) and a
recesslve (Short t) LralL llke Peads and 1alls of a coln
W Jhen you Loss Lhe coln Lhere are 1/2 chances each for geLLlng Peads and 1alls
W Chances of male planL LransmlLLlng 1 and female planL also LransmlLLlng 1 ls Z x Z
x (11) and lnformaLlon for t by male and female planLs ls also x (tt)
W Slmllarly male planL LransmlLLlng 1 and female LransmlLLlng t or vlce vetso are x
each So Lhe probablllLy of geLLlng 1t ls x + x Z
W As per Lhe law of domlnance planL carrylng boLh 11 and 1t boLh would look 1a||
whlch ls equal Lo Z + x and only Lhose planLs carrylng tt would look Short whlch
would be x
W n a cross of 1a|| and Short planLs of Lhe planLs would be 1a|| and x would be
Short ln Lhe l2 generaLlon or 31 raLlo
8ased on Lheory of robablllLy
now d|d he prove that x of the p|ants are heterozygous for the Dom|nant tra|t?
Monohybr|d 1est cross]8ack cross
neterozygous for the tra|t nomozygous for the tra|t
ormu|ated the f|rst |aw the |aw of Dom|nance
1 LvL8? C8AnS, PAS 1JC lAC1C8S lC8 LACP 18A1
2 n A C8CSS Cl 18uL 88LLun A8Ln1S J1P CCn18AS1n CPA8AC1L8S
CnL? CnL 18A1 JLL ALA8 n 1PL 8CLn? JPCP S 1PL uC,nAnA1
18A1 Anu 1PL 18A1 1PA1 LxS1S PuuLn S 1PL 8LCLSSvL 18A1
ormu|ated the second |aw the |aw of Segregat|on
1 1PL lAC1C8S SL8LA1L uu8n A,L1L lC8,A1Cn
2 Anu LACP A,L1L CCn1AnS CnL? CnL Cl 1PL 1JC lAC1C8S Cl A 18A1
3 Cn lL81LA1Cn 1PL nuvuuAL L1S 1JC lAC1C8S lC8 LACP 18A1
Modern v|ew of the above conc|us|ons
1 LACP 18A1 S CCn18CLLLu 8? 1JC ALLLLLS C8 LnLS
2 8LSLn1 Cn A PC,CLCCuS A8 Cl CP8C,CSC,LS A1 A SLClC LCCuS
3 LxS1LnCL Cl 1PL uC,nAn1 ALLLLL ,ASkS 1PL PLnC1?C Lx8LSSCn
Cl 8LCLSSvL ALLLLL
W JhaL would be Lhe case when Lwo Lrue breedlng parenLs wlLh more Lhan one
conLrasLlng LralLs are maLed?
W Consldered Lruebreedlng planLs dlfferlng ln Lwo phenoLyplc LralLs
W erformed ulhybrld (1woLralL) cross for several generaLlons
W ,ade observaLlons and more lnLeresLlng resulLs were obLalned
W Applled robablllLy Lheory Lo draw concluslons and formulaLe Lhe Lhlrd law of
heredlLy
urther exper|mentat|on
DiIylrid cross
1all reen Is ShorL ?ellow
All 1all and reen progeny
S
p
e
r
m
Lggs
ffspr|ng
D|hybr|d 1est cross]8ack cross
henotype 1 1 1 1 If the test p|ant |s
heterozygous for both the tra|ts
henotype 2 2 or 1 1 |f the test p|ant |s
heterozygous on|y for one of the two tra|ts
henotype a|| dom|nant or a|| recess|ve |f the
test p|ant |s homozygous for dom|nant or recess|ve
tra|ts respect|ve|y
W 8ased on Lhese observaLlons formulaLed Lhe Lhlrd law of heredlLy the |aw of
|ndependent assortment
1 LACP A8 Cl lAC1C8S SL8LA1L nuLLnuLn1L? Cl 1PL C1PL8 A8
2 ALL CSS8LL A8n Cl lAC1C8S CAn CCCu8 n 1PL A,L1LS
Ma[or accomp||shments
W roved LhaL heredlLary facLors are dlscreLe and parLlculaLe and do noL blend as
Charles uarwln LhoughL
W roved LhaL each LralL has Lwo facLors (alleles) and LhaL Lhe progeny recelves
one each from Lhelr parenLs
W ulfferenL heredlLary facLors are LransmlLLed lndependenLly of each oLher
W CurloslLy Lo undersLand Lhe processes happenlng around you
W denLlfylng and undersLandlng Lhe quesLlon
W denLlfylng Lhe approprlaLe model and sLraLegy Lo answer Lhe
quesLlon
W ,aklng slncere observaLlons of Lhe model sysLem
W Loglcal analysls and lnLerpreLaLlon of Lhe observaLlons
W valldaLlon of flndlngs
Jhat to |earn
nUMAN GLNL1IC DISDLS
W nherlLance of speclflc dlsorder depends on Lhe Lype of chromosome (sex
chromosome or auLosome) affecLed and wheLher Lhe LralL ls domlnanL or recesslve
W unllke chromosomal dlvlslon dlvlslon beLween domlnanL and recesslve LralLs
doesn'L follow deflned rules
W Sexllnked dlsorders are lnherlLed Lhrough one of Lhe Lwo sexchromosomes (x ?)
W AuLosomoal dlsorders are lnherlLed by any of Lhe 22 palrs of chromosomes oLher
Lhan Lhe sex chromosomes
W Autosoma| dom|nant d|sorders only one copy of Lhe muLaLed gene ls necessary
and Lhus has aL leasL one affecLed parenL 30 probablllLy of an lnfanL developlng
Lhe dlsorder
W Autosoma| recess|ve d|sorders Lwo coples of Lhe muLaLed gene ls necessary and
usually has Lwo unaffecLed parenLs who acL as carrlers 23 of Lhe lnfanLs would
develop Lhe dlsease
Autosoma| dom|nant d|sorders
Autosoma| recess|ve d|sorders

W G||bert's d|sease L affecLs Lhe way blllrubln ls processed by Lhe llver and causes
[aundlce
W Neurof|bromatos|s uark spoLs develop on Lhe skln and small benlgn Lumors
arlse fromflbroous nerve coverlngs
W nunt|ngton d|sease A neurologlcal dlsease LhaL leads Lo progresslve
degeneraLlon of braln cells and causes severe muscle spasms and personallLy
dlsorders
W 1aySachs d|sease A braln dlsorder LhaL resulLs ln progresslve deLerloraLlon of
psychomoLor funcLlons
W Cyst|c |bros|s ,ucus ln Lhe bronchlal Lubes and pancreaLlc ducLs becomes Lhlck
and vlscous oor body developmenL and llfeLhreaLenlng
W heny|ketonur|a ndlvlduals lack enzyme for normal meLabollsm of phenylalanlne
Plgh levels of henylalanlne are harmful Lo CnS and resulL ln 8raln damage
Sex||nked d|sorders
W Sexchromosome relaLed dlsorders are rare
W no vlLal genes reslde only on ? chromosomes
W ?chromosome dlsorders are rare
W Defect|ve 1est|cu|ar Deve|opment ls caused due Lo deleLlon or a deleLerlous
muLaLlon ln S8? (SexdeLermlnlng 8eglon ?) resenLs a female phenoLype
W ?chromosome dlsorders LhaL do noL follow ,endel's laws of heredlLy are raLher
caused by defecLs ln melosls
W ||nefe|ter syndrome karyoLype ls xx? and lndlvlduals wlLh Lhls karyoLype are
mosLly asympLomaLlc AffecLed lndlvlduals show hypogonadlsm or lnferLlllLy
W O syndrome an aneuploldy (abnormal number) and mosLly asympLomaLlc
AffecLed lndlvlduals commonly presenL learnlng dlsablllLles
O||nked d|sorders
W Are elLher recesslve or domlnanL
W n xllnked domlnanL dlsorders lf Lhe faLher carrles Lhe defecLlve gene on x
chromosome hls glrl chlld alone wlll be affecLed and lf Lhe moLher carrles Lhe
gene 30 of Lhe chlldren (male or female) are affecLed
W All Lhose carrylng Lhe gene may noL show Lhe dlsease and depends on Lhe
amounL of peneLrance or Lhe ablllLy Lo express Lhe defecLlve gene
W n xllnked recesslve dlsorders lf Lhe faLher ls affecLed and moLher ls noL none
of Lhe chlldren wlll have Lhe dlsease however glrls wlll become carrlers and lf
moLher ls a carrler and faLher ls normal abouL 23 of Lhe boys wlll have Lhe
dlsease and 23 glrls can become Lhe carrlers wlLh resL 30 boys or glrls
wlLhouL Lhe dlsease
W ?chromosome doesn'L conLaln mosL of Lhe genes on Lhe xchromosome
hence can noL proLecL male ln xllnked recesslve dlsorders
Dom|nant d|sorders
W A|card| syndrome ls a rare geneLlc malformaLlon syndrome characLerlzed by Lhe
parLlal or compleLe absence of a key sLrucLure ln Lhe braln called Lhe corpus
callosum Lhe presence of reLlnal abnormallLles and selzures ln Lhe form of
lnfanLlle spasms
W ett syndrome ls a neurodevelopmenLal dlsorder of Lhe grey maLLer of Lhe braln
LhaL affecLs females more commonly Lhan males 1he cllnlcal feaLures lnclude
small hands and feeL and a deceleraLlon of Lhe raLe of head growLh (lncludlng
mlcrocephaly ln some)
ecess|ve d|sorders
W naemoph|||a ls a blood cloLLlng dlsorder caused by a muLaLlon of Lhe lacLor x
gene leadlng Lo a deflclency of facLor v (A) or lacLor x (8) whlch leads Lo an
lncreased propenslLy for haemorrhage
W Co|or b||ndness ls Lhe decreased ablllLy Lo percelve dlfferences beLween some of
Lhe colors LhaL oLhers can dlsLlngulsh L ls mosL ofLen of geneLlc naLure buL may
also occur because of some eye nerve or braln damage or exposure Lo cerLaln
chemlcals
ed|gree charts
W A ed|gree ls a charL of geneLlc Lree of a famlly over several generaLlons
W A physlclan can undersLand Lhe famlly hlsLory by consLrucLlng Lhe charL and
predlcL Lhe occurrence of a speclflc geneLlc dlsorder ln Lhe chlld
W lemale ls lndlcaLed wlLh a C|rc|e and Lhe male wlLh a Square
W ConnecLlng llnes beLween a clrcle and a square lndlcaLe a marrlage or maLlng
parLners and Lhe offsprlngs are lndlcaLed by a connecLlng llne below Lhe maLlng
parenLs
W lraLernal Lwlns (Lwlns developed from Lwo dlfferenL embryos) and Lhe ldenLlcal
Lwlns (developed from a slngle embryo) are lndlcaLed separaLely
arenLs
Cffsprlngs
lraLernal denLlcal
Norma| hea|thy ped|gree
Affected
O||nked
Autosoma|
Carr|er
Dead
Interpretat|ng a ed|gree chart
W Jhether Autosoma| or O||nked?
W xllnked lf mosL of Lhe males ln Lhe pedlgree are affecLed
W AuLosomal lf Lhe dlsorder ls 3030beLween men and women
O ||nked Autosoma|
D|sorder dom|nant or recess|ve?
W f uomlnanL one of Lhe parenLs musL have Lhe dlsorder
W f recesslve nelLher of Lhe parenLs need Lo have Lhe dlsorder as Lhey can be
heLerozygous for Lhe same
Dom|nant ecess|ve
LOCL1INS 1 MLNDLL'S LAJS INnLI1ANCL
W Slnce ,endels Llme our knowledge of Lhe mechanlsms of geneLlc lnherlLance has
grown lmmensely none of Lhe Lhree laws are compleLely Lrue buL helped ln Laklng
forward ln a rlghL dlrecLlon
W PeredlLary facLors are codom|nant (gene exlsLs ln mulLlple allellc forms) enes
conLrolllng blood Lypes
W Lxpresslon of elLher of Lhe Lwo slngle alleles ls lncompleLe (Incomp|ete dom|nance
or |e|otropy) Slckle cell anemla
W Jhen one LralL ls conLrolled by more Lhan Lwo seLs of genes expresslon of each
domlnanL allele has an addlLlve effecL on Lhe phenoLype (o|ygen|c |nher|tance or
Lp|stas|s) 8ody helghL
W Lxpresslon of some of Lhe genes requlre addlLlonal facLors Incomp|ete penetrance
,ulLlple sclerosls
W ,endel belleved LhaL all unlLs of lnherlLance are passed on Lo offsprlng
unchanged unsLable alleles LhaL double beLween generaLlons are an lmporLanL
excepLlon Lo Lhls rule
W LnvlronmenLal lnfluence on phenoLype nuLrlLlonal dependence of helghL welghL
Sccics mosi suiiallc for ccrimcnial rcscarcI....