-

l'rincipl cs of Inherit ance .ind V;1riatio n ~

161
,- Chr,,nw ,om.,I 1h,11rv ot mlwnt; inu• w,1, rmJ'll'l'Ohv <;uttnn and !l(,vcn mdcpen
dl•nllv m l'Kl2
11,e two wm \..,,, ., i\iu nd ., dt1lol' , 111111,mt \ l•,•IWL>en llw tr,111~m """"' ot Ml'nde l1 ,111
lwrcd1t;try
t,1ct1•rs l>;l'lll', l ,rnd bl'l,,1v1,,ur ol , hr,1m11,,,m,•, dunn!-\ i;,1ml'le fl,rm,1tion ,i nd h-rld11,1
11on Thl'y
proix1-.,·d that, hmm,>-11111,..., Wl'r,· t lw lilrTll'I" 111 the MenJeh ,,n f,1, tor,
II 1~ lhl' d 1romos om e ,1nd n111 i;,•nl...,, which 'l'!;n.'ga te ,ind i\S!,ort 1mlt·pen dentl v dunng
llll'1os1s
,md r,-comb inc ,,t th,• tm1l' 01 fcrtihz,,tion 111 th,• /y).\ot,•
Chrom o,,ome tlwrn vol mh, nl,1nn~ w,,s c,p,rnd l'd lw l\h•ri;,111. Sturtev ant ,md Bndi;e~
The h1ll1•wmg ,,n· the m,,m le.i tun.~ 111 chn,m11,11nw tlw,,rv of mhl•nta nce
hl N ucleu~ tlln l.im-. .:h romu~o m,•,. Tlwrd11rl', i:hnu11p,omt•~ mu!>t Cil rry th e 11l'rl'Jlla
ry traib.
111) Both the Cf,!; .ind ,p,·rm .:on tnbute L"-lually m thl' her,-du v of the offsprin g.
lml Like the h,•f\.-dil.'1ry tr,1its, tlw chrom~ 1me;, ret;im lheir numbe r, s truclun.• i!nd ind1vid
ui1li ty
1hroui;1ho ut the hi e lll ,111 or).\,lllb m and lrom i;enl'r.1 tion to gc neril tion. The two neither
get
los t no r mi,ed up TI1ev bel1,we as unit,
(Iv) lloth c hromos ome, ,\Swell a, ~enes occur in pair; m 1he !>t1mahc or d1plo;d cells
(v) A gamete con tam:, o nl y o ne c h rumoso mes o f ii tyJ)I! and lmly o ne o f thl' two alleles
of a LTait.
(nil In many o rganism :., sex of ,,n md1\;d u«I is de1erm111ed by !>pea fie chromC>SOmes
called sex
chrom osome;.
IS. (i) XX- XO Type. In rou ndworms Mid some insects (trnL' bugs, s r.1ss h11ppcr, l,
the females have
two se" chmmo somL''· XX. whi il' the ma le<; have ,mlv one sex chromo some, X.11,ercfore,
the
males a re designa ted ,,s XO Th e females .-ire homoga metic because Lhl'y produc e o
nly one
lvpe of t'gg:, (A+X ). I he mall"> .uc hNerog.1metic w11h half lhe male gamete s (gynosp
errns)
ci1rrying X-chro mosom c (A+Xl, w hile the other hal f (a ndrospe rmsl being devoid of it
(A + 0).
These" r;illu producl'd 111 lhe progl'n y is I . l.
Iii) ZW- Z.Z T)·pc ( = W / - W\.\ Tvpc). In birds and some rt.'ptile;. both lhe sews pos!,ci,,
two sc:,.
chromo som;.-s b ut w,h l..c humam, beings the females contain ln•tcrom orp hic Sex chro mosom
es
(AA ~ ZW) whi le the m.ik-s havl' ho momo rphic se, chromo somes (A/\ + ZZ). Such type
of sex
detem un,,tion m,, hanism IS d1..>S1gnated to be the C'ICample ot fcm.1lc h, tcroga d\
1 ·
19. ~lendelii\11 d1,orJc rs are dctenninL'<-i bv mutatio n in the single gene and transmit led
lo lhl' o ffspring
as pl'r Me nde li.in p rindplt· ,.
The pattern of inhl'n t,,m,• of s uch Mendelian J bordL·rs can be 1r.1ct'd ma l.1mil~ by
lhc Pedigre e
a na lvs1s.
11,l' M>l·nd ehan d 1~nrde r~ arc of lw,>majn types:
I GL•nc fvlut.1t1um, 111 ....._,, chronwsomL.,, E,.impl e, : Sid.Jc CL•II Anaem ia and Phem·l\
..e tonu ri,1
n Gene Mu1,11m ns in ~ , chron111•,om<'S [,ampl e, : H,1cmo philia.
2U f'hl!nvl ketonu n ,1 1-.. ,lll 1nh,,rn J,t:' llt!l ll' d i:,m,kr 111 w l11ch, the homozy gous recessiv
,, mdivid u,11
lild..~·1he plwnvla l,111inc lwdro, yl,1,t' noteded to chani:;c the ;im1110 ,,cid, phenyla lanme
to ty rosive.
As a re~ult uf 1h1~. phl'nvla lanine is accumu l111ed and n1nvcrt ,·d into phe nylp)'Tl.
l\'ll ;icid and
other d criva th'l'S Accumul.1liP11 11( these in brain results in men1.il ret.-ird,111011 . TI1ese
are al'-0
e>.crelL•d thw ui;h un ne beci\ use o f its poor ab~orpl lun by kidney. L,c \.. o f llw Cl17VlllC
is du e to the
abnom1al au tosoma l r~'<·l'.,_1,·e gen,• ,,n chromo-.omL· 12.
cl Att,·r th,: n•d1 ...n•n•rv o f \l,•nd,•I', \vork. the practice nl ,maly,m g mhenl;in.:,· pattern 111 trail!- in
hum,rn being~ h•gan. A~ lOntrol h:J rrossc~ r .111 be perlorm l'!J on pl:mts and o th er o ri;a
n1~ms ,, nd
nol 111 human bt'mgs ;iltem,11ivl' ~tLJd1c.-s \,·,•r,· m,,dl' 111 , tudy th,• l,11nily hi..lLlr\' abou
t mhen1a 1Kc
nf parhrul.:ir tr JII ~uLh ,rn anah·,1 , ,,r trn1l, in ~<'n·r,11 111 gcnl'r,1hun,, .. r ., f,1m1h•
1, .:,1U.:J thl'
ped1i;rc.-e ana lvsi< In I""· lhl' mlwra 1,111, L' lll ,, p;irncul ar trail 1~ rpr rt"-enlL•d 111 1he f;11nilv
lre.- •" er
~4.inl·r ,, t inn.,
 I S'i
1•it11, 1ph•, 111 l11l w111.1111 ,. ,111.l V,1rl11ll1111,
1 l,ir,-:•
111 I lw, , ,,ml'k r.• 1lw 1r lit.•, 1 d t• 1n ,1!,0 111 I"'" w,•,•1..-. .111.I ,1 ,1n~I,· m,111111-: un1ld prn,Ju tt• •
1
1111111h·1"' l'l •ll\1'11\ Iii,•,
11111 I )\I' m,11, ,md l,•111,11,· llh •, ,l h ,·,1,11\ il1, l111g111, h,1l,I,·
'-l't..'n wi th low powt•r m1cro<,("opL'
II\ l It h,,, 111,1111 rv,,,,, ,,t li,•1,·d lt.u 1 , ,1n,1ll1111~ tlt,11, ,111 b,·
1111 "'L'd , h,1p,·. pod ,h,1p, •,111d 11• ,d lOlou
r llw rl'Cl'SS lVl' fum, , •1( w hom
11 nt,•1<•111 11,111, ,11,•-.. nl, 111,
,In'~• •'<'1111 I \\ I m l..l,·d 11 l, 11111,lnd,•d (I•I ,111d I'•' " ""' (~) r,·,,wd1vl'ly
n ( ,;econ dary sexu.:il
1lw ,11h, It'd I'•'''" " .,r,· -.h•r 11,· ll'm,11,·, w hn h,1v1• 1111li11wnl,1rv nv,1rics, lnck lar abnur rnalitw'>
,.irdicwn<;eu
.:h.u,1, 1t•1 ,h,111 ,1,1111r.• ",,t,t,,•d 11,, I., ,md ,1bm1rm,1I 1ntdlihl'nCl',
.md lw,1rl11h n11p,1ir11w111
o( nowc r colou r m p url' slate,
, In .-111111 , 111111,.,, 111,,,11, l"n., pd 1.1,.:nn ,,r nu~ nuw,•rl. 1lw1" nr,· two IVJW"
n,1 tRR l .111d ,, hit,• l1rl, \\lhl'n tlw tw,1 1v1•,·~ 111 pl,1nt-. .ir,· cn,..:,,;.
•d. thl· hybri d ur pl,rnt-; of F,
e r,11iun ilrC of thn•c t ypc1t
~••1wr,1th111 h,1\ L' pml.. tkm·L•r, II llw l,1IIL•r ,11 ,. ~l'lfr•d . t hl' pli111 L-. o( F214en
Th b i. hows the ch,rng e from
n.-.i. p111I.. ,1nd 1, hill' th>1, <"r,•d III lhL· r.1tm of I 2. I (phcn otyp1c ratw)
Cn>!,!t. The gcnol yprc ratio
lh.- 1 I d1•111111,mt n" c:.~11·,• r.1110 obt,1incd 111 Mc11dd1,1n mono hybrid
"'""-' ,.,.,,th llw ,.1111,• 1 ,· .. I ~ I
colo ur appilr enlly appears
Tin,~. 11 -.h,," .. lh,11 R w,,~ nm c-11m plL'lcly do111111,1 nl 111•er r ilnd the pink
Ju..- t11 1111'111): lll red ,rnd whi le u•lour; (incom pl..-ll• d11m111 ,111ce).
al ron. It i, not depen dent
In hu m,m L-..•111~, tlw .... , nt th,• nff:.pn ng is ,fotl'm11nl'd .11 LhL· trmeo l fcrtiliz
ic ;ind produ ces onJy o ne
on ,Ill\' d 1,m1ct ,•risllc ol th.:- ll'm,tlt' pc1rc111 b1·c·,1u-.... tlw l,1tter I!> homogamet
m, (22 + Y) and ~,·n , P<" 111,
tYpe ot .:~~s (2: • \ l ThL• m,,t .. ~,1 ml'll'~ .ire o l tw,1 1vpes, ., ,J ospt'r
l'g& (22 + X) w ith a gynos perm
(22 -t \ l ThL·V .1r,• pri•du <t•d rn l'<Jll.il pr11pnrt11m. Ft>rtrhz..1tion of the
(22 + ,\)will pmdu <,· ., fl' fllilll' child (•M + XX) whi ll' ll'rtlliz ati,m
w11h ;in andro spem1 (22 + Y) givci.
Lhe father side, I.he se, o f Lhe
nse lo nMJ.,. d11kl (-l-l + \'\ l As Y-chromosoml'. ll'h1ch conw~ from
child" determ med by tlw fo1lwr and not by tlw m11Lhe r.
l'• A mu t,1 11011 th,,t 1111·1,lved ,1 ,ingle br1se chilng e is Cillled
point mul,1 tion. A clasi1cal exam ple o (
pomt mu tall()n ,., s1dJ1..-cl'II ilnaemr.1
111 I Rccom brn,ll ion, (t'l.c" <.umhi11,1t111n~,. They .ire
the reshuffling of paren tal genes and the ir
hn l..ilge-. '" ilS to pwdu ce new genotype~
II. :-01ut,1hon, ii.re 11c11 :.uJde n 111hent.1bled1sconti nuous variat ions
w hich appea r m theorganisr ns
dul' 1(1 p,•m1.:incn1d1an1-:.:- 111 their genoty pes.
10 Haem ophih il r, a gl'neh c dr<,md er Ihil t occurs due to the
prL'!tence 01,1 recessive sex linked g ene /1 ,
Carril'd by X-d ,mmu snnw. A (em.ii<• becom es haem ophiliac onl
y w hen both its X-chr omos omcs
birlh becau se the comb ination
caTT) 1lw !,!t'IW ( \ " \ " l I lowev er, such females generally die before
of the:.l' twu rcccss11·e alleles 1s lethal
- J\ ll'mal,• h,,vm g only o,w ,11lele for haemo philia (XXh)
app ea rs norma l beca use the a llele for
Such female s are know n
nonna l bluod clolhn g prl''L'llt on the other X-chro mosom e ti, domin nnt.
as c,1rncr~
itself a s the Y-ch romos ome ,s
- In c,1~c of males ,, srngl<' gene for this defect is able to e,pre ss
de1•111d of .1nr corres pond mg allek ( X h) l
two types, (22 + X) and (22 + Y) .
=I The m.1ll' h,111w te.., or ,pem1 , produLed by huma n males are of hl'lero game tyl.
Human male, ,ir.- therefore. hdl·n 0 .1 n, tr, (milll' d 1g,1mety or male
ralk• can be group ed
: ! In F~ge1wr,1l1nn. r,1l1u ,lf purpl,• tn wh1tl.' llowl' rs is approx.i matel y 3 : I so theing fact..,
(olJow
under \-IL·ndeh,111 mono hybnd cros-. I he croi,s tu r t her e,pl,1ins the
•red plnnts .
(,1) F 1,, rl'p rl'~l' nted bv one ut the paren tal (ormi,, ,.,· . purpl e llowL
ill F~gc•ncr almn
!bl Both th,• r.irt:'nt.. 1 <'. purplt • ,rnJ wlute 11,,wered planb appea r
 160

(al Dom ina nt

(bl Au toso ma l
(c) Parent s - ~ln thc r - ,,.i
Fat her - Aa
Thi rd child · Aa
Fir.; t Gra nd child - Aa
'- chm mo :,0m e,
Se>. linked reces5l\ 'e d 1SCa se, p resen t on .
be ea rne r and fath er sho u ld be h,ll 'mo phi l1c for a d aug h te r lo be aHe cted
Mo the r sho uld r o f ,uc h a lef'l'lalt
phi lK I!> e>.trem ely rare becall5t> mo the
The poss1b1litv of a bt., ·i,m ing a haeml1 es 01
ner and the fa the r sho uld be hae mo ph11Jc (un via ble in the la ter ,tag
has 10 be dlle ~t ear fath er to dau ght er
/ Sho ws ois s cro ss mhe n ta nce from mo ther to son and lrom hae mo plu lic
hfo)
I!
Il
It rs the ,,_tern.ii mar ules ,.,no n of gene
h 15 ~ g,.-ne com pl;,m n,t of ~n mdM
· ,h nu,·
prcx turu t,rough1 10 r.,pr ess1 on whi
..,m , thm ugh - , li .
dial wlu dl rem. uns the wn i:e " "1th time and , n,,ro nmt enl
ou1 thr W;, o/ •n indl \idl al mfa nt ado lesc en1 ) o un!l and old
ct
1 Ph.. nuty pe ran be l.no "'n thro ugh dm.-
~ ~ ocvp r cann ot be , rud1ed d1rt tth observation.
v ul
h an be l.no wn U\rOugh 1he ,11.1d
, n~1 on, nu nng and otts pnn g
-pc,s
lndw 1du. tls with S lmil ill phe no l}'
nuv
3
.) In 4 g,,·e n env11unmenl or luJle not belo ng to s.un< ' go,n otvp t'
1nd1,,du , l, wi th ~,m,14r geno h'J"">
,.,u prod utt• simtl.tr pheno lype s
JndJ \~du •I ..,1h diffort'.111 p hen ur~
USll.llh
◄ lnd1V1d u.ili ,.~,h
dtfforrnl !?CnOl\-p0
4
h.1,·• d1ffr.ren1 gen otvp es
m• ,-· h,a ,•e urruLu ph.- nory pe, g ..
t,tllnes, ror TT o1nd T1

l ..,.-t ~11
In J 4.. It O I 11 ,l

e Effect of both the alleles is equ allv

Eift!ct of one of the two .iHell-,, is mor
con spic uo us .
rons p1c uou ,
~ Then .' is no mix ing or the e
ffec t of the tw o
2.. It p rod u ces a fine rrux turc of the allel e-.
exp ress ion of two alle k,., ct inde pen-
of lhe 3. Both th e alle les p rod uce their effe
J Tht' eife ct m hyb rid is inle rme dia lt'
den tly. t'.g.. I" and 1 , Hb5 and Hb" .
11
exp ress ion o f th,· two aUr les.
in thre e stag es :
1,, Me nde l's el<penm ent s were per form ed
(1) Selectio n of pu re or true bre
edi ng par ent s.
(1i) Hy brid tsah on and obt ai.
n ing of F1 gen era tion of pla nts.
F F F
nati o n of hyb rid pla nls and rais ing of sub seq uen t gen e ra 0· o ns l'rk e •., ,. •
Cui) Self p olli
t
CC.

I< ••• n ro, ,J Jd ,u. ·,ss

dw arf, gre en ,u,J
Th o~•h.a ract ers cho sen by Me nde l had d istin ctiv e cha ract ers like tall a n d
Ci) vei7

ri m en ts whi le tu·
UJ) a t one tim e for his bre ed ing e xpe
~:: ;de l took ~nc or "':'o cha rac ters
sim ulta neo us ly.
r ec~ ors o en s tud ierl all the tra its
ds and la w f .
( 11il He use d s taru ticaJ me tho o p rob ab1htv fo r ana lysi ng his res u lts
Ci\ I \.f d I '- pl«'tt'
.. o nl y tho se tra.r ts w h ·ch
1 d 1d , in tera c ti on o r rnl·o rii
1!11 e too ' not s h ow linkage
dom ina nce
 • • M I

IM

01 lh, I ,-;cn,•r,H1un lu,I tlJ \ t,IJ, ,\\ .uhl 1ot11hl ..., n .J... t, \J(r' It" ,,.._ bt,,10"4 ." \ l.'llo\... ,u1d "'""4
..,•thng. lht rt...,ult.,n,
tr.u1 ... h-t'fl' rt"f'n h\ '"'" d1 •111111.mC ,, , 1 ►~ I• t·n ,md \\ nnkle'\.I lr,:111, ( >n "-4'ff ~n
f-, wl•H• , hn,•q•d clw lnll"\\ 111,.; 111111 rvp1·, ul p l,1111, ,llo l"'-pl1ltul't.l bv lhl..' l"iiru,,,
,-.!l'fl\'r, 11 11111

"I""''r,,:
Ri.'ft•r r;:
~u) llu.•pht.•n,,t,r fl r,1l 1t1,,1 ,1d ,h-..h111 l 111 ",w,l.., q t t I ,.,_hich ,h nw1..•dt h ,11 1tw f,Hh11,1 1j 1, 1,ct
f,1t..·tor,,, wen.• nol f"Tl'Wnl
c,, llw , ,,.,, t h,H ,h h''"' ·' "'""'" ll 'd md, ·1•t•11dt•11lh ,,, ,, tht• Pll wr p,ur 1 ,t
(111> Pnndp lt or J,H\ , ,, mdt.•J~·ndt•nl .1-..,(11tnw111
, r~..,.., Q • ,._ '" ·""' 11 r•·l
,1nd mu l1ipt, , all.-1£-s
"· \II() M.- ,I >:ruup .,1 ,1L•t11111 l111111.,r1 (>,.•111~• ,, ,111 ,•,,11111' /,• 11) I~ •lh codnnu n,1111
I lum,111 b,•mg< h,I\ ,. '" i;,•n, ,11 f'L.., 11,d h 0111 11 1, • id ,1sroup, t>r blood i;roup
phL•no1v,x·,- A. 8
AR,m dll
cn,11mi; of red
- The bkl<•J cn,ur< ,.,,, d,•1,•11n11wd b\· I"" l\ pt' ' I'll ,111l ig<'n~ presen t ,n llw ~urt,1C\•
blood ,,•II, .-\ ,111.t fl
a,, ..... ,>:ro>up 1\ p,•r,, on, h,l\ ,. ,11111i;,·11 1\ gttlllf I U h,l \ 't' ,llll tg, 11 B. ,\U h ,111· b, 11ft .anug,m, wh,le
0

hfood l!'"U/' Cl p,•r-,111s d,, ,,.,, c.1m· 111\' ,m11g,•11.

,11/des I". /1 .ind 1
f 'n.--em ,. ,1l 1s,·nn· .rnd t\'f'<' "' .11111ge1h Ml' ddl.'rmml'\.l br thrt't' 1mmunoi;en
f ' fom" ,mlrAen A . 111 ,1 n11i;,•11 14 11 lu l, ,,11,·lt' , II ') ,, reces,,ve .1nd does not
torm any anttgen
BotJ1 f ' .1ml 111 ,1r,• donti11,1111n1 ,.,. , but nut ,,,.<'f l',1d 1o thl'r \Vhen both I" a nd Ill ,,re present in
~ f'-'r;on, both 1h.- ,11/d...,, ,11<' ,,H,· lt1 •''I'" "th,•m ,dves fonrun
g anllg,m s A and B. Such ,,llefL.,,
wh1d1 ,1 r,· ,1bll' ' " ,•, p r..~, th, 111,eh ,... 111 lfrl! pres,mu~ nt e,tLh other M t' called
0 co,lom11111 l
Rt!ter Te,t rwnt lb
Reter Te~ t l'ornl 15
In ,1 pt'.'drr;rt'1.' ,1 ,,,uar,· r,•f>rL''L'nls Ilw mill<'. ,1 , 1rd,• 1h,• l,m1al,•, ,olid (blaclo.e
nedJ , \ mbol show, 1h,
an open or clo!i11
trait u11Jo:'r ,tud1· nr ,1/1,•ded mJ11·1Jual. 1111,1/f,' l ll'd or normal u1J i\'1dual by
,,·mbo / ,mJ ., ar,.,, o r <h,1d.- (ot ""' 11p,•1111 th,, s1mbol ,1g111fi,.., th,· c.irrier
of a r1.'Ce,,,,1w allde
tnl lme 1\'hile their
\Vord, r,111 ,1lsn f:,(, ust>J m pl,.u' 111 ,vmbn l, r.1 re111, ,H l' , hoh·n by hon✓nn
1>/1,pn ng are .:on necto:J 111 ,1 l11 ., n.'rtfr,1 / 1ml' TI il' o(tspn ng MC also
~hown in the form of ,1
hnri7,,11t,1l lu,e bd,•" th,· p.irt·ni- ,111J numl>, ·rni wllh Jr;ibic numera ls
E.1ch gl.'neralion 1s g1v('n
,1 rnm~ n numer,1I .,ml 1 ,,•p.1r,1lt' '"" <1r lwruom,11 lllll'
s 10 the o lf~pnng,
,, n1is ,, .in ,1UtiN1m,1I linl,.t>,./ n-n•s-11 ,. :r,111 th,11 ca n bt' 1r,111smi llt.>d fro m p;irent
•~ contro ll1.>J byd
wh.,n bolh lh< p ,1rtner., ,lfl'<,1rn,• /or lhl gl'ne lor l1l'hm1z ygote~I The disease
,m~I,, p,11r " ' ,1/J,,J.,, I /hi\ o1mi / II•" \Vh,:n I\\ n , ickle cell ca rrll'r~ or ht•lcroz
ygote-, marry, the~
ho mozy).:C1ll~
proJu u · tl rrt"t.' fl!'•"• o f d1ildn· n l111nH•zvg11u~ 11om1,li, h('teroz vgous carrier ,,nd
,,,.1,.1t- u•/Jt✓ 111 ch, r,111(1 ll I 2 I. I lv1, < I l'r, homo11•gous sicl,/,•-celled individ
uab (Hb' I fl:, l Jie
,n , h1/.lh1~,J tbt'l1>rt' rt'pr, ,du,111 e ,1)!,•J due h•,Kulc an,wmia. Till'ref
ore, a r,1ho of o nl' normal 1,1
,.,.,. c<1 r111•r, is olir.11111 J
1111n ,11
Th,· d,,, ,rdt'r 1,, ., ,,••., l1 1 th, ,11b,1ttu111111 ol g/u f,lmlL ilUJ by Valine m the , l\ th Po~1
~inglc b.i-<'
h-c ho1111 ,,, th,· l1.1t•m11f!/,1b,n 1111Jlt•nrle lhi- sub:.ll lulio n n•sul t- du(' to th,•
o n ch n111111'-lll11l' ii
,ult,111u1wn ,11 th,• ,nth n.J1111 nl 1/w b-d1,1in ha('moi:;lobin i:;ent' ,.iluillt 'li
ln,n11 , \( ,,, tu .: 111r ~hH,1m11 ,lu,/J tc1GLC, tcodm g /or\',1h 11d
l"
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