PRINCIPLES OF INHERITANCE AND VARIATION S

O regor John Mendal

" 7years (i85$ - Ie6a)
7characBu gavden pea (pisomsahivum)
chavacher Dominant frait Recessive tait " Small pant , easity grouw in smq area
Seed shape Round K Wrinkled
" Short ije cyele (3-t monih)
Seed colour YellowY Green clear vavakion in characfer
Flower colour Purple/ V White V
"easiy sy polinated feross polinated
voile " Casiy olyain pre kine /hue breding
Flower position Axdial A Terminal a "single eross proadure Jarge no- seec

Plant height Tall 7 Shortt

Pod shape Inflated Constricted

Pod colour Green G Yellow

snp points: Geno'ype vyjs Phepoype

Gene vs Alele Geneie makop Physfco appearence
Ta! ldepend
Sagmentof DNA which Vaients gne "TT
"T Tall "Gonotype
synhesise RNA duang "enviroment jaqors
Gene<
punneg squae
Homomygus s HehoYgous P p
Same gemefes Gamates Reghold-c- ponnet
(rdt) (Brifish sienst)
PE Pp

AocUs Homoygoas * gamte

tdy obovt. possible
om binafon p

TIkoOcUs : i tous have same alde P PP

T r kocug i foeas have dt lde

o Sane gene pureplant|Troe breeding /Homorypous
shoeo
Homdlogooe chremasome Hehorygous ’ hey on confinous sels polinaHon
sfoble rat nheifonce (one phenotype)

Donúrant v/s Recassire ’ Recessive chonoujee aue ofwaye pre ine

cond?, in Hleoygoue cond
in Helevozyousexpres * Menda! selet()trve breeding vateis
pea pjant
Facor coWoh set Facor hat not expreses (7-pars)
Dominant (Tt)=Tat Reeesive

cond)
 kaw t Dominance
"chauacfers ae confraled by kacors (diserefe n)
" Facors ocUT in pair
Jo díssimlar pafr facfors
one dominafe (expresing ch)
’ otheu vecenive (pon-expresing ch)
"Sn mon ohybrîd cross. 5: ony one parejal characfer expreses
’a: boHh the parenjal charaofo exprenes
monohy brid cross
parenhal: TT Xtt

Tt
Jseging
Ttx Tt
"Phenotypic Raio: 3:|
(fal: dwant)
Genolypic Rahio: 1:2:|
t T | tt (TT: T(:t)

D Low of segvegaiorn
-Based on : footors alele do nof shoto biengiBo porentel
chrr
Teeovered in F gen
Facjors segegrae at fiye ¢ gameBe grm.
’ Homozyqous: prode similar type gamejet
’ Hejeuozygou: produce two kinas gemeBee(each hariog one allele oih qual proporkon)
TT X tt

F: *facfors do not shoco blending

TT, Tt, Tt,t+ elc Reappearenxe dwas chr in Fa ,wNich was not seen in Fj:
6Test e10ss
To idony unknewn gnotype Mendka) cros it with
Unkoown x Recessive Recessie parent
Tall prent
" 1type o phenotype ohseveq * Unknoon amete)
tt)
"Ij 2type hcnotype obs euveq i: Unknown (a gonete)
TE
Tt Tt,tt
s%fall, so% duor Teot eroe: PR=GR= 1:
 Tncomblefe dominance
’F pring phenoBype dos not raemble any parent
Dog Plow/ snap dragon/ Aotna hincam apede,
wnte
parent:
* Jo incompleke dominance
do not show
blen ding "lauw of segegaion
P Piak law o dorminance

"PR: Red: pink: wije = |:2:)

piak pink white " GR: RR: Rr:Y =J:2:1I

: PR= GR
O Norma) lle Mutaion
Nodilied Alele
JFom |Form
Notmal enyme
less Fneang Non-Funcional NO enTyme
Normai penotye enzyme
(less gJen)
nzyme
Dominont trast < equivalen) to Redvce /eeced phenotype
Unmodijed allle Recessive trat

Co- dominance

’6 gen. raembles both he parent

’ 3o Weroygoos cordn ’Both auele expreEses (Boh apital leter)
eg: AB 8ood group , caHe hoir calour, Gene of sikje cel anemia

Red buly X wwk cow

(RR) (ww) "PR: Red: Roon: wite = l:2:1
W "4R RR: RW :ww = l:2:|
|PR= GR
R

PR=GR Test cYOLS = I:I

RR, RW,RW, WW bo-doinane = |:2:1
(Red,
bon
(kean)(Roan) (ult Ineomplee doninane=):2:)
9 MolWple allele
"i gene have more than two alele fvarients
g: AB0 Blood group(Tgene) I Dominant alele produce sighigy dijeent suger.
’3 allele i Recessire atlele ’ do not produce sger
qenotype phenoBype
A8 (co-dominance)
tTojal Genotype: 6
" ToBal phenatype: 4
* for maxm posíb+Hes slet Helerozygoe parent
N
Allele from Allele from Genotype of Blood
Parent 1 Parent 2 offspring types of
offspring
A
AB .TATO:B
A

14JB AB
o A0BO
B
B

i it

As per AB0 blood grouping system, the blood group of father is Bt,mother is At and child is [Link]
respective genotype can be
A. IBi/1Ai/i v TeTE TATA/
B. IP® /1^TA /ii
C. IATB /iIA /TBi
D. IAi/IBi/IAi
E. iIE /iTA /IATB
Choose the most appropriate answer from the options given below:
1. B only
2.C & Bonly
Neet-2024
3.D &Eonty
A.A only
( Dihybrid cross|(Tuo chavacter) F, grneratlon
Round yvellow
Rr Yy

Round yulou coinked faeen Selfing

RR YY
Gamctc Gamcte

RrYY

Facn (RrYg)
Round
Rrty
RRYy

RrTy

F. grneration

Fagco RYRY Rryy

RY RRYYRRYy RrYY RrYy Phenotyple ratlo : round yellow : round green : wrinkled yellow : wrinkled green
RY RRYy |RR9 Rry Rr4
P 9: 3:3:1
|9 :2:I:2:4:2:1:2:1|
(8:)(3:1) (3*3) (3*) (x3) (xI) (Oihybria crass)
raffo Green
3
3 1 * Parental type 10
* Geotye (::2:) (:2:1) * Non parenta: 6
(Reecm binan)

OLaw of independen assor}ment

Bqsed on dYhy bud (uos obsuvafon.
when tD pure fwss aue ombfned tn hybulo
then sequofon f one palu of troaf} fs (hdeprndnp)
of othu pafa tro

Round yow cOLènHed fgxen

(RRYY) (8)
* Dupla cire >(s:1
(RYy)5 Addiive’ 9:6:1
Round weinHey Round WLsnldeg collaberaire 9:3:3:1
Yellow ûr(en Green yd<ou
Dorninent ’ 12:3:|
tpistqsis
Non-pverja)
pauento Recessire ’ q:3:4
Suggest Padeprd ent astoulmen. pisBsis
(2) Mendal work
" Nendal .7yea (LeS6-l863) (900
Nenda) po blfs hed is wo4k 86S3
3 sdenist
STnhukslonie of chooukr de-viu, covrens
Von tscher mark

thy independenty
Reqson fou unegsoen rediscoveued Menajal 's wok

O communicatfon cwas not eary

a Stable f disruefe on
t: chau ufu aue cenhuolled by facfo Chyomosome dliscovwed
paîu o alelg fch afd not blend notaccepteq (olouY bodie)
by ts còntempavt,
Nehonolio In bfolg
Nenda) Soggeted facos/gene
bot he fafied to puovfte phystrad puoof

(3) SuHon Bovei

Mendol e t
obseve chromosome MoreMeut duig cel deisio n
Behaviour o genelfocer
Behayioor of chromoromes parelel o behaviours o gene Faclors oceUT in þoir
* hy used chomosonge mortmeut fo explain Menda's law (TT, TH tt)
xpeineut on independent anoryeu Facfors segerate af inye
Possibility I
One long orange and short green
Possibility II
One long orange and short red
f gomeje prmaion
chromosome and long yellow and chromosome and long yellow and
short red chromosome at the
same pole
short green chromosome at the
same pole
one pair
inepertinrae

Meiosis I - anaphase Meiosis I - anaphase

Sutfon Goveri's expt

BehaviouY of chromosome;
Meiosis II - anaphase Metosis I| anaphase chromotome gceur
chrm- segxate af ine of
gamee frmaion (miosis):
Germ cells Germ cells
"3ndepentent pair segerale
independengy
Independent assortment of chromosomes
(9 Chromosomal theony of inheritan ce
Soon ¢Bovu& [Link] sepe atfon f cheuomosony
(ead to pafubrg 4sepeu aon F pair las.
3oHon- ynaied Fnouledge f chuomo some fachok behafo

Chuomo thuy o fohusloue

(Qene/ 7acw puuen on thomogene)

upuimental
Yawlfceifon: + Thomcy Hont Morgan
(He sed uosobta Melonoga Yay)

Grown orn simple synhete mediom

" Short ile eycle (2 wecks: 14 days)
Single moHing an produe large nmber of progey
cleav djenentoion in s9xes (mote ffemole)
Mony typeu of Hereditavy voriahon

9 Morgan's CrosS) Cross A

SCuoss A3
wfdpe/Domiront wtdtype| Domira nt V w y'w*

Red eye whfte eyet Red eye y w

yelow bod Noumal yellou body, Wild type

role) (female) (male) (female) wlite eye

Grown body.
Red eye
wnite ye ¢ Red eye wite ye Red eye
mlnatpue uoing hocumal usirg
(male)
Bucun bod Imale) (Fermale) :Recombinant (13%)
(Remale)
Red yet vouite Red ye. wt
Cross B
ei Red eye+ wte
ye¢
Red
M
Nomol Norma)
+buoon
bodg bod atng wing w

Pauenhol tyee paen}a bype Recombirant white ye Wild type

Recombirant minature wing Red eye
Gs-7%) 323
Normal wing
*********************

*parentol type alws greatu than Re combinont . dt, inkage+

: Recombinant D(37.2)
D0S}anee blo « evOssing a Recombinant _
gene over
Linkage
 Some imporBant points
Rocombfnans aue the aesolhof ewoig ove
,paentcl tgpe Reeom binant
(+)’ aleninant tPe
Oveu ony pose fn chuomosome.
BIG: Homclogoy
chovmo Sorne

Mougen cofned teum lnkoge - physfrat qrsodofon of

Gene on chuomeorme
teum ReLombinufon’ Geneyefer f nonposyal
Cernbfnafon
(Reom bfn ant)
Mougan -fathu texpeaâmenta
Ganefes
" Recombinaion ’R No o Reeombinants xI00
Aeqoeny Total ospria
.............
parenta t Non parentay
(Recombinon)

OGeneic map
*Al Ped outevent(Shlent f Nouagn) Assertion (A) : Mendel's law of independent assortment does not hold
good for the genes that are located closely on the same chromosome.
*He usec Reombiro fon fuequengy_to Reason (R) : Closely located genes assort independently.
mea s0e dictone b/w enes In the light of the above statements, choose the correct answer from the
4(mO Ppeq) theu pocffon of cheuomoparne. options given below: 2022
Cenefic
mgp
Both (A) and (R) are correct and (R) is the correct explanation of
Distonre b/o o RP (A)
ene
Both (A) and (R) are correct but (R) is not the correct
unft [Link] b gene explanation of (A)

puokayele (A) is correct but (R) is not correct

"RP30%.
" distonre = 30 dist b/w 20 (A) Is not correct but (R) is correct
Nap Unit
blw gene cenmaqon gns

Rf: Q-c :30z.

" a - b : I01.
ba
b c : 40.V
30%.
 Poggeu Cinherifonee
|pleioropg
imangGtne- 1eat many
sfogle
ene efpea
Range of Homon HegN gi"ene on meBabole pamoc
" Human skin colouu

+PhenoByPe eplet con us)

*Phenglketouasa (Pky)
Sated by sngle gene
mutaHon
Penotypfecpae uton
A,B,Cs dauk ofou e ’ mtntal refaudaion,
Q,bi t colouu ’ Hal loss,
, A9B8 CC cdaukest siefn
-Skn pfgm mjaion
og bbee : (ghtes Skin Stauch sfre.
Aa BOCc ! In Jumedioje
Skín colouY. BB’ lauge siae:
" Bb’ famefak PHENYLKETONURIA
*polyg euïc fn beonc inflvence
by environ ment.

inornbte lominonre

(Sex dejerninaon
male HeteuoAamehy female Hekuapomety
ZW 4z2
(nale) (male)
female) (tenaly)
" Humans
Duosoplilq
KGuoshoop
moth
Human
* Sex determinaion în Hurnans
·Aype , 23 poir of chrromoromes (n each pregnancy
*22 poir: Autosomes here is always so%
Drosopkiáa
*1pair: Sex chromos ome (oxlxy) probabiUy of ither
male|kmale child)
Sex dejerminaion in Honey bee Birds Z W

* Haplo-diplon He sex de<erminaion

’ male: n() : Haploid
’Femakes: 2n (92): Diploid
’ Based on number of sets of chromosomes
on individval receives
 pawet (Female (rmale
(n=2) (n=ls) Drone Queen Worker

Spwm)

Pardhonggcnc¥s
man female emdle
(drone) Baf Roval
woukeu bee
Qyeen
bee

FwFised a (e9A +SPum) ’n)’ female work

mon (drone)By pauthano
geneit
Female -’mothe, fo th eue nole_do no)have Fatheu
male ony mothe: bt imale have Gegnd fa thee
¢ Crand son.

20)Mendelian Disordeus
by Mutakon Jaltun ajon in single gee (inhuatebe from parent to ollspring)
"Sex inked) Aufosome linked recessive Autosome Ainked dominant
x-Linked Yee saive
"Haemohkiua,
Gys Helibrosis , PkU
AI binism, Sickle ee gnamia
Nyoloude dyeto
coloUY blindnes Thales emia

@ HAEMO PHILIA Fani'y pedigre of

’ X-inkec) RecessPve hh) Queen vicjoria
paokins )
AKted cdoHg p Bloec’ (casade ef (HaemgbuJic cowiu)
.a simpe cavs Nen-shap bleeding
piseosec male
* x h ’ pfseeced female Nauma] male
" Dy
D2 Nouma) female
xhx Nouma) but Death at laks siage /aellosenee)
Caueiu emale
-piseatedSPrtemey, Be Sneed piseased male
Kem ale
Rue-lf oied in later sage
CovN, pîseosed
mothu
 ’ nked Rece ssfve (ce)
’ Defeet Pn (Red lgueeone

Folr to difpumfale bleo Red en colove

mole) 8% Ble Ceny tha leac colbuu- b/fadne
emales - 04% Pyesent on x-cheomoçome.
1"Nale have on y 1'x'chwomocome
dfsoede pencenage is ligl
"xx colourbld emale
X X’ Noumol emal xy’coloyublind mole
"X y Noum olma le
cauusu Jenale
so% chlid ditose (4)
X y ’ S0% kemale chid diseose (V)
’ so% male chId discase (U)

C)SICKLE CELL ANAEMIA

* Normal allele Mutajed/
Aufosomeal wecessie SCA alele
Change in shape cf RBC (Bicovave sickle
<hqpe)
Glutamic acid valine
* HBH6 Nomal (a) (vo)
H6AHO Caujy (Hatuoaygou)
H'H Dease d (SCA) Dve to single base substi
AUjosorna) at sth codon of -Gtobin
Ag NoUma) peuson qene (GAG’ Gu)
Hb a og ’ pisesec) pu son
Substh of Glujaujc aiq to
Norme! pson vaine af 6t posiion of
pchain of Hoemoglcbin
ROC Polym ezuisoHon
Normal Hb (Algene GAG Sickle-cell Hb(S) gene
CTC CAC
(oiconcave
mRNA
G¢G mRNA GÚG
oise Shape) (siekie shape)
5 6
(Vai-His)
3 6
(point muBaion)
HbÀ peptide HbS peptide
 OPHENYLKETOUREA
Autosormq) ieessive

In boun auo in [Link] to Tngle gene

mutafon )

Nolalfon
phengl uosine phemy nrym pheng
Crene that alowne
alaz'ne alaine
pnal hydercNelose Code for (accomblaHar)
Pywwic
enzyme
enzyme
PHENYLKETONURIA
* Acomolafon pheng/ ala«ne în br C¤n UeJoIB
’ menja sejaudufon, hair losS SÛn pamen)oPon,
* These cofe exfucted thuogh vafae
B/c of fs pooy absoe plYon by kicney

©THALASS EMIA - alobeh

Chain
Hoomollop B-Globhn
’ Autasoma) - Retesive 2 Chufn
2
’ Bloo d Dfsease/Anaemia)
duefo moafonldelefon fn Gicbio chain (o+p Chasn)
Normal Thalassemia

Rate of synhe sfs of one of globin

Foum? of Abnoemc) Hoemo yDbfn
(Anaemg
y/s B- Thal sse, Blood reated disordeu
q- Thalassenio
Thalasseaia
globin offund "B-globin apjd Quantalive problem
" Contwolled by Too contuoled by Binglelgene
closey tinke Gene (synthesiag,
lobin e fuw
HBA1 HBA *Sickle cell anaenia
puuent onN:1
puyent on CN=163
motafon ln Qualitafive probjem
Obeeqved due to Nolaion due fo (syn thesising incorrect
one /both genes.
of one /moue hun tgene funcfoning globie)
 Chrom osomal disordee
due to absence|exce/ abnorma arvargmet one or more chyomosomes
Aneoploidy [Link], KS
Polgplaidy (usly in planty)
"Failvre of Ana phase I failore ytokinesis afleu
täophase stage of cel diviion
ChromaHds duing cet diviton <Aesos
Jreaons O inc- in whole sef o chromosomes
Goin |(essin chromosomes
@Doun's syndrome
-’ Gon oP eteachyorncsorme -| Flat back of head Broad flat face

(Autosome) " Heal" Srnaty- Rcond, Many "loops on

finger tips Big and wrinkledi
{lat in tbok Palm crease tongue

" Face: Bcad-ot Congenital heart:

disease
London Doton
in (1 866)
tongue: gig uouinkjed -
furrouwed
" Shout Statuyed peuson " Heaut' Congenilal el fsrase
' Physica/menta) pSychomekur palm: od-Crease
G devpt: Retarded 5 Brgu: mong loops.

Klineeler's syndrome Türnee'sSyncrbme

*Qafn of extea * loss oP X-cheo mosome
X- chuOmoome

47 ChuOMOseme 4s ChUomo some

*oruay maselfne but " Rudimn tauy byaçes

" laek of Sec-sexUC< ehwcafer.
emiafne Ghauiat) e
develop.
ynaecom shiq .
StealeLernle3 Ks
TS
(deveiepment Bueac)
Tall stature Short stature and
with feminised underdeveloped
Steuile male3 character feminine character
 Pedigree Analysis
Analysis of hait in Savowal genoion f stuly of fariy history about inheuijanee
*Anaysis of tatt whehee it ie Dominant/ Recessive Sex-ink JAfosorna
Male

female
when dfseas Dfcease Not peusnt
sex unspecified puesn o eroy In oach geneua)on
genuolfon
affected individuals

mating

mating between relatives

(consanguineous mating) Aoosomal v/s Sex-1nked
parents above and
children below Diseose Puurut X-1fnked Mecesstve
(in order of birth-left to right)
Manctomey in Dkease Diseqse puyen fn
bo+h)sex. Kew maly.
parents with male child
affected with disease
femcals

* Thansmiss ion frorn

5 five unaffected offspring
carier <emale maje progen

Autosomal Dominant Autosoma4 Recessive

(Myotonie dystropy) (Sickle cel anaenia)
23) MUtaon
’ caused by Uy Radliaion
" faefor hat couse mujafon cla: Muager
" Atunoton of DNA sequence Jehomosome Change in gnoBype fphenohype
Gene mutaion Chromasomal mufatYon
Tnseution, Delefon SUbshitoon
AAAAA AATGC GAG (G10) " Commony obseNYeq in cancer ceus
AAUAAA AAGC GU9 (va)

Point Mufalion \FrameS} Mutaion

"change in gingle bae poir of oNA (Frameshi inseuHon l dyelion Mojalon)
q: Sickle cel auimia (GAGGU) "Snge«ion/dlelion of base poing of DNA
MUlaion V
sinset 1: (AvG UGG Gcc CUUu change in
+insert 2: AvG UG GGCCCUlU Reading Franme
oinsert 3: AvG DUU G4G cCcC 0ONO change in
(muliple of MuBalion X Reaoling Frame
tinee)