Principles ofInheritance and Variation

But one chromosome contains several genes. IfMende l had been dealing with genes at
different loci in the same chro~oso me, ~e wo\lld pave got different 7es_ults fr~m that he
obtained because a chromosome al~ays intends to·be hande~ down m its entirety to the
ffspring and all the genes that are in the same chron1osome mtend to be handed down to
die offspring in a group. They are tied or linked to one another. It is only when pairs of
alleles are in separate pairs of chromosomes that they_are assorted independ ently of each
other.
Other Patterns of Inherita nce and Genotyp ic Express ion
Incompl ete Domina nce : So far you have learnt about Mendel's law of dominan ce
which states that in a pair of contrasti ng factors, one is dominan t and other is recessive e.g.,
in smoothness and wrinkled ness the smoothne ss is dominati ng, in black colour and brown
colour the black is dominati ng factor etc. However, in Antirrhin um majus (Fig. 12) and
Mirabilisjalapa (4 O'clock plant), a cross between varieties with red and white produces an
all pink Fi progeny. This intermed iate inheritan ce is termed incompl ete dominan ce.
When F 1 are selfed gives F 2 progenie s which·contain red, pink and white in the ratio of
1: 2: 1 where pink is the heterozyg ous phenotyp e (Fig. 12).
Codomi nance: There are several examples where two or more alleles do not show
complete dominance or recessive ness due tQ the (ailµre of any allele to be dominan t in the
het.erozygous condition. This state ofcodomfu ance is an exception to the situation described
by Mendel in his monohyb rid experime nts. ·
p generatio~ '

Gametes

F1 Pink
generation Rr

Gametes

Egg Sperm
F2
generation

Fig. 12 : Incomple te dominan ce of flower colour in Antirrhin um mqju

ha8 Codominance is found both in pl~ts and animals. In most of the cases the he:
co ~ ~henotype which is intenned iate between the homozygous dominan t and ~ozyg?te
n tions. For example -Product ion of Andalusi an fowls by crossing pure-b din:ecebssive
· ree g lack
 es ofInheritance an d Variation=='=----
In di hy br id cr.os s ' Mend e__ se lec ted tw ·
Pr
-:
inc ipl
;- -~ -~ -;___ _ _ rs :,_ .:.. :.:.:,::..:,Su.::.ch
I (al lel es).
in kl ed gr · . · ~ pa ir~ of co ntr as tin g ch ara cte
lS ro un d ye llo w wi th
wr 0 ~:r;;o.ssmg the se va rie tie s, he go t heterozygotes,
Jla nte d th em an d by se lf- po lli,
n~ tio
'
n kllbt \~
0 ain ~~ s~cond ge ne rat ion .
F 2 Ge ne ra tio n M on oh yb rid
Tr ai t F1 fo rm Re su lts Ra tio
(D om in an t) (R ec es siv e)
all ye llo w 6022 2001 3.0 1: 1
Se ed Co lou r
(Yellow x gr ee n) · (yellow) (green)
all ro un d 5474 1850 2.96: 1
Se ed Sh ap e
(ro un d) (w rin kle d)
(ro un d x wr ink led )
all pu rp le 705 224 3.15: 1
Fl ow er Co lou r (white)
(p ur ple x wh ite ) (purple)
428 152 2.82: 1
Po d Co lou r all gr ee n
(green) (yellow)
(g ree n x ye llo w)
' '

ed 88 2 299 2.95: 1
Po d Sh ap e all inf lat
(inflated) (constricted)
(in fla ted X

co ns tri cte d) 207 3.1 4: 1

all ax ial 65 1
Fl ow er Po sit ion (axial) (terminal)
(ax ial X ter mi na l) 2.8 4: 1
tal l 787 277
all
Pl an t He igh t . . ,(ta ll) (dwarf)
(ta ll x dw arf )

M en de l's La ws re na me d
s ex pe rim en ts M en de l for mu lat ed ce rta in law s wh ich we
On th e ba sis of hi or "M en de l's La ws " or "P rin cip les
of
ws of In he rit an ce
aft er hi m as M en de l's La
low s:
He re di ty ". Th e law s ar e as fol
(1) La w of Do mi na nc e.
(2) La w of Se gr eg ati on an
d Pu rit y of Ga me tes .
(3) La w of In de pe nd en t As
so rtm en t of Ch ara cte rs.

(1) La w of Do m in an ce er is
in a pa ir of op po sed fac tor s, on e fac tor is do mi na nt an d oth
Me nd el th ou gh t th at bo th the ch ara cte rs "s mo ot hn es s" an
d
un d pe a co nta ins
recessive. Th e hy br id (F1) ro is vis ibl e an d no t the wr ink led ne ss be ca us e
oo thn ess
"w rin kl ed ne ss" bu t th e eff ec
a do m in
t of
an t
sm
ch ar ac te r wh ile the wr in kl ed ne ss is a re ce ss iv e
the sm oo th ne ss is on e of two op po sit e ch ara cte rs is sa
id to be
ich co nta ins on ly
ch ar ac ter . A pl an t wh nta ins bo th th e ch ar ac ter s is sa id to be
br id wh ich co
ho m oz yg ou s wh ile th e hy
he ter oz yg ou s. . rr p
X
RR
j,
Rr F1
All pl an t ha vin g sm oo th see ds
an ce ex pl ai ns th e ap pe ar an ce of a pa rt icu la r c h ar ac te r
. Th us , th e la w of do m in
1n th e hy br id s.
SB PD Pu bl ica tio ns Bioiogy
(X II)
- . . · . .
an d sp la sh ed wh ite pa re nt - Th , ., re se nc e .o f bl ~c k pl um
a~ .e 1s th e resll}
al stocks... e Ph bi ac k pi
po ss es sio n of an all ele for th gm en t m el an in . Th e sp J.a s~
stock la ck th is allele. Th e he e pr od uc tio n of f e .al of ~
terozygotes show1a pa rti develo pm en t of m el an in which lhit;
a bl ue sh ee n in th e pl um ag Pr°%~
e. ·
In th e ca se of An da lu sia n fo · bo l
ill us tra te th e al le le s- Bl ac wl , th ~ ~o llowi ng ge ~ o! ~ ~ ;~ th e;may be '18e(l ff)
k- B; sp las he d w hi te -b , Wd,
all ow ed to in te rb re ed , th e
F 2 ge ne ra tio n shows a mo ·
Bifi t' th 1 ga
lenerat~,f
ph en ot yp ic mo no hy br id ra tio • of 3 1 I th ' as e a ph ca ~on °t. ef no rm _Mende
: . . n is c . enoty ~
wh er e ha lf th e F 2 ge ne ra tio . p1c.ra f10 o. 1• : 2. : 1 18 prvuu
~ eed
of ex am pl es of codominance. n ha ve th e F 1 ge no ty pe . ~ s;~10 ~ 1 ~ 2bl1 ~8 ch ar
Exa:roples of Co do m in an
Ot he r ex am pl es ar e sh ow n
in ow in g a e · ° a~
ce

Ch ar ac te ri ~t ic H et er oz yg ou s
Al le le '

ph en ot yp e
An tir rh in u, m flower re d x -
wh ite pi nk
M irabilis flowei':" . r.ed x wh ite, I

I
pi nk
Sh or t ho rn ca ttl e re dx wh ite
-··
~
,r oa n
An go ra an d
• · - · +

- lo ng ·ha ir in te rm ed ia te sil k
x ra bb its
an d sh or t fur.
hah-
-
M ul tip le Al le le : Th er e ar e
ce rta in genes which ha ve mo
in m an th er e ar e fo ur blood re th an tw o forms. For example,,
groups A, B, ~ fill:d 0. Le tte
ty pe s of glycoprotein wh ich rs·A an d B sy mb ol ise two diff
ar e found in blood groups A erent
th e ty pe s of glycoprotein ar an d B re sp ec tiv ely . In.AB typ
e found. In blood•gr ou pO , ne e, Wll
ar e fo un d. ith er of th e tw o ty pe s of gl yc
o~
Th re e di ffe re nt alleles IA, IB
an d i 'o f a gene de ter m in e th
gr ou ps . In th e pr es en ce of e ph en ot yp es of four bhiod
IA, glycoprotein A is formed
gl yc op ro tei n B is formed. wh ile in th e pr es en ce of all
Any pe rso n m ay possess on ele f
pa re nt. Bu t sin ce th er e ar e th ly tw o of th es e all ele s one fro
re e ty pe s of alleles he nc e th m each
sh ow n be lo w : er e ca n be 6 ty pe s of genotyp
es as

1A IB i
1A 1A1A 1A1B
IA i
1B 1A1B 1B1B
!Bi
i IAi
18 i ii
Th.us, six ty pe s of genotype
s ar e .
(1 ) IA 1A (2 ) 1A 1B' (3 ) 1A
i, (4 ) 1B 1B' (5 ) 1B i, (6 ) ii.
 SB P D P ub l ic
' ations Bw
' log y (XII)
~ ..:..

B lo od B lo od gr ou p o f ot h
B lo od er
gr ou p of gr ou p of pa re nt
of fs pr in g on e of th e
P os si bl e Im po ss ib le
pa re nt s
0 0 A ,B AB
A O ,B
B O ,A
A O ,B A ,A B O, B
B O ,A B , AB O ,A
AB A B ,A B O ,A
B A ,A B O, B
AB A ,B ,A B 0
P le io tr op y
Th e pl ei ot ro py n;i.ay
ce ll an ae m ia is a fa be de fin ed·~s "a bi lit y of a'ge n e to h av
m ou s ex am pl e of pl ei e m an y ef fe ct s. " Sidl
ca us ed by a re ce ss iv e ot ro py . T hi s•is- a he e,
gene. Th is ge ne ca us re di ta ry di se as e whidi
es ii
As a re su lt of th is
th e sh ap e of re<i bl oo -t he pr od uc tio n of an ab no rm al ha emog)al
si ck le - sh ap ed . U su d ·co rp us cl es (RBC a
al ly th e homozygous,i s) is di st or te d and hm
by th e de at h of sickle nd iv id ua ls di e ea rl y du e m
-shaped RBCs. O n th e to se ve re an ae m ia r.allll
bo th no rm al an d ab ot he r ha nd , he te ro zy i
no rm al ha e~ og lo bi n go us in di vi du al s who
ge ne , ac t as ca rr ie r of sl;lrvive be tt er. T he in IJ11!1B
th e ge ne s from ge ne ra di vi du al s, heterozygo
tio n t~ ge ~e ra tio n as us to die
HIJA an d H b 8 ar e ge ne s sh ow n be lo w in
for th e rio rm al ~ d ab Fig. l l
no rm al h~ em og lo bi n
Sickle eell ca rr ie r re sp ec tively.
X Si ck le cell ca rr ie r
(m,AHb•> -1 (Hh"Hb"l
I
¼no rm al I
½C ar rie r ¼no rm al ly di e
(m ,A H b8 ) (m ,A H bS ) ea rly in life
(H bS Bb S)
P ed ig r" 8 A na ly si s (F Fi g. 13
ig. 14)
As peas an d a few
an im al s ca n be cr os
Moreover, hu m an s ar se d at ou r w ill hu m
e ~ tu re d at th e ag e an s ca nn ot be crossed·
v ~ few. U ~d er th es of ab ou t,2 0 ye ar s' an
e d th ei r o:ffsprings ~ a}sO
th ei r he re di ty , m et ho ci rc u~ st an ce s, for th e st ud y of a few ge d
d of pe di gr ee an al ys is ne tic tr ai ts distributio
Fo r Pe di gr ee an al ys is is ad op te d. n an 1

tr ai t is collected an d , fi rs t of all in.formation ab ou

th en the expression t th e fa m ily 's hi st or y
pe di gr ee an al ys is a of th e tr ai t is as se m for a partic,llat'
few sp ec ia lis ed sy m bo bl ed in to th e family
Circle O = Fe m al e; Sq ls ar e u~ ed w hi ch ar tree• Ill
ua re D = M al e e as follows :
A lin e be tw ee n circle ·
an d sq ua re = m ar ri ag
e 0 -0
\
I
 Principles ofInheritance and Var iati on
by
h as exp osu re to sun ligh t. Hu ma n hei ght and intelligence are affe cted
,_a tio n suc
bhttition and social background. ge of
a rigidly defined phe not ype , but a ran
·:•; iA genotype gen era lly does not produce of the sam e
hent ,types due to env iron me nta l infl uence. For example, Hydrangea flowers
, n the aci dity of the
P_iietic variety ran ge in colour
from blueviolet to pink, dep end ing upo
ref er
This phe not ypi c ran ge is call ed the nor m of rea ctio n for a genotype. Gen etic ists
:~:: and
cha rac ter as mu ltif act ori al, me ani ng tha t ma ny fac tors , bot h gen etic
to 'such
ype.
envionmental, collectively influence phenot
MUTATION {FIG. 27)
on
Genetic variations also aris e by mutation
. The mu tati on ma y be defined as "al ter ati
y be
arr ang em ent , or am oun t of gen eti c ma ter ial of a cel l or a virus." The y ma
in the or
eith er poi nt mu tat ion s inv olv ing min or cha nge s in the gen etic ma ter ial
classified as
ons (e.g ., del eti ons ) inv olv ing larg er sections of chromosomes. Mu tati ons
macromutati tran spo son s
y involve tran spo sab le ele me nts and
often occur dur ing DNA rep lica tion , ma
and commonly involve enz ym e activity.
TRANSLOCATIONS
+ + Balanced 'reciprocal
~ C I) X ID -- -- -_ _. .

. 8entric fusion --. .-- . _ . r I

~ ff ll ():( ill: :DC Rob erts oni an) -~i~titl

II n I I ) L~ ]
LOST
DELETIONS
ISOCHROMOSOMES
+ ~ [D ]
~
Fragments

INV DsI ON S RING CHROMOSOMES

ri c + ~ ~ [OD]
-nt-
~a ra ce
~ ...,- CDXIlD C[ ]IJ :(I )-+
t t Fragments
~ . . ... ~
e.ncentnc
Fig, 27; Chromosomal mutations.

~l<EDINHERIITANCE
ery of Sex Chromosomes
the ear ly yea rs of the pre sen t cen tury , it was shown that females and males differ in
ch.r0: om
Th is wa s inv est iga ted by several workers am ong wh
&to;tg sozn a1 con stit utio n.
special attention. According
fotheu;°::ey, Mc Clung, Sutton, Stevens and Wilson need same in different animals
es is not the
In ' chromosomal differences between the sex
erence is simplest i.e., ma les hav e on~
chrolllos:ome bugs and grasshoppers, the diff
llle less than the females.
 SBPD Public€ltions Biology (XII) h . ·g randsons through his daught 11
· ked traits to is /.', ers ,,_
"The male transmits his sex-Zin t alternate or cross ,rom one to
sex_ the 0; "C~

~o or through his sons. T_he trait thus ~eem;h; ofcourse is the mode oftransmzssi,,,,_ follie,i
its passage from generation to generation. t n X-chrornosome from the father, zv1,' If:/' ~-fi
. he d ghters ge a the r. " - s·1nnot & l\. ~-
by the X-chromosome. Only t . au ,ne +rorn the mo . h ·t
n X-chrornoso , , en ance.
UUt
both sons and daughters receive a . lled Criss-Cr oss 1n q
18
This type of inheritance of characters ca
SEX-LINKED GENES IN MAN .d h uman t ra1·t . Besides il
. . on sex-linke
Red-green colour-blin dness is moS t ~ommitral stenosis, baldness etc. are oti; 1
ll'

blindness, haemophil ia, glaucoma, my~pia, m th h redity of colour-blin dness ~

linked characters. Wilson (1911) descnbed tha~ e e esponsible for this ; ~~
explained with the assumption that the recessive gene r . conUJilllrlu
contained in the X-chromosome and that the male is heterogam etic sex.
In humans, females contain XX and males contain XY chro~osom es. It is a ~ tt

common observation that the colour-blindness is found more often ID men than WODJen;tij
is because male always transmits his X-chromos ome to all his daught ers and to noneoffui
sons. Contrary to this female transmits X to each of her offsprings irrespective oftheir ill
. Thus, all the sons produced by a colour-blin d mother will be colour-bli nd and the Dflmnal
vision father will always produce normal vision daughters (carriers). These daught.ers eoot.am
this colour-blindness genes in recessive condition. If these daughters are married tonmmaJ
vision husband they will produce all the daughters normal visioned (out of which 50%m
normal and rest 50% daughters will be carriers) but the 50% sons will be normal andM
will be colour-blind.
1. Results of inheritan ce of colour-bl indness, if there is marriage bdwm
colour-bli nd m~ and normal woman: Whenever a colour-bli nd man is marriedm
normal female, their all the sons will be normal but all the daughte will b · of1JPTI11
of colour-blindness. (Fig. 28) rs e earner i,-

2. Normal man and colour-bli nd woman •. If a norm al man 1s . marned . to a 011rour

blind h · :.
woman, t en their all the sons will be colour-blin d d . .
of gene of colour-blindness (Fig. 2D). an all the daughters will be carnet'

.3. Normal
of fman and carrier
woman .. If a normal man . "ed t •ho~.
earner gene o colour-blindness then their 50'¼O . is marn o a woman ,rill
be normal. But 50% daughters will be carri sons will be colour-bli nd and 50'l, ~ .
will be normal (Fig. 30). er of gene of colour-bli ndness and~ daugb~
4. Colour-bl
. ind. male and carrier woman. If 1 ·ed to'
woman w ho 1s a earner of gene of colour-bl. d · a co our-blind male is marn .
and rest 50% sons will be normal; 50% dau ~~ nes~ then their 50o/c sons will be colout-b}illd
will be carrier of gene of colour-blin dness ~F_ers will be colour-blin d and rest50%da ughtel'5
. 1g. 31).
Haemophil1a
. Haemoph ilia disease is also sex-linked
females.
m males than h·1· · The sex-linked characters are expressed1llore
H •
aemop 1 1a 1s a known disease £
family of Queen Victoria. Queen Victorior a v~ry long time. Th. . . dill tbe
mutation. The characteris tics of this di a received this ge fr is disease was {oun tJ}td
Queen Victoria. Haemophil ia is of tw t sease appeared inne om her parents as a res os of
o yPes : one son and two gr,and so
 SBPD Publi catio ns Biology (XII) . .
B aem ophi lia is a disea se . bl
in which 00d d 0 es not clot at mJur y. Thus ' 1·r ther
sligh test injur y in whic h blood starts flowing out of the bo d y .t
haemophi • . i may prove fatal eis
. gene wh' h · locat ed on X-ch romo some B · 1\
ha 1s cause d by a recessive ic is . . · ecau~.
man there is only one X-chromosome hence gene chara cter is expre
contr ary, in fema les there are two XX chromosomes, one of these
ssed in male. Ont:
cann ot cause its effeet; •
the fema le but such fema les become carrie r of such
gene (:XXh) Exam ples -
(1) Inhe ritan ce of haem ophi lia by marr ying a norm al man
wom an: In this case 50% of sons will be affected by haem0 J?hilia _and 5 0%
carry the gene of haem ophil ia. Rest of the sons and daug hters will~
t
wi b a haemopbu·
of daugh ters~;
fl}

I
: norm al (Fig. 32).
(2) Inhe ritan ce of haem ophi lia by marr ying a haem ophi bc man
with norni
wom an : Whe n a haem ophil iac man marr ies a norm al ":o_man then
norm .al but all their daug hters will be carrie r ofhae moph ihac gene
a~l their sons Will:
s (Fig. 31).
3. Inhe ritan ce of haem ophi liac by marr ying a haem ophi lic
man (XhY) With
haem ophi liac carr ier wom an (XhX) : If a haem ophil iac man marr 1
ies a carrie r wom~
(for haem ophil ia) then 50% sons and 50% daug hters will suffe r from
this disease. Rest 50%:
sons will be norm al but rest 50% daug hters will be carri er of haem
ophil ia gene (Fig. 3-t).
Male Gametes ➔ r y
Fem ale
Gam .etes xh xh haem ophi lic '
XhY
J, daug hter · haem ophi lic
r son
X xxh carri er daug hter XY Norm al son
Fig.3 4
Inhe ritan ce of haem ophi lia (XY) if a norm al man mar ries
(4)
a woman who
suffe rs from haem ophi lia (Xh Xh) : In this case all their sons will
suffe r from haemophilia
and all their daug hters will be carri er for haem ophil iac genes . (Fig.
35)
Male Gam etes X - y
➔

Fem ale XhX carri er

Xhy
Gam etes daug hter
ir haem ophi lic
son
XhX carri er
r daug hter
Xhy
,haem ophi lic
son
Fig. 35
SEX DETE RMIN ATIO N IN MAN (FIG. 36)
- In hum ans, a male is desig n~ted as XY and a fem
etic beca use they produ ce two tyPes f ale as XX. Thus , men are. ·d tobB
sai J1ll5
bet~rog:x:a1:romosome and rest half receive Y-chr O sperm s at meio
recei ve -c sis. Half of the spe ~e
omosome. On the othe r hand , womefl
p
Principles ofInheritance and Variati on
aid to be homog ametic becaus e they produc e only one type of ovum with only
~-c;bromosome. Sex is determ ined at the time of fertiliza tion, since the union of an ~
with a X-chromosome bearing sperm, the zygote formed have XX chromo some thus produc mg
a.female child. Similar ly, if the ovum is fertilize d by a sperm bearing Y chromo some, the
zygote produced will have XY chromo some._This zygote will produce a male child. As female
and male individ uals are produce d in approxi mately equal number s, it indicat es that the X-
sp~rro and Y-sperm are also formed ~ equal number s and either kind has an equal chance
of union with the ovum.

44+XY 44+:XX

~
22 + X erms __.......,.,

44+XX 44+:XX 44+XY 44+XY

Females Males
Fig. 36 : Determ ination of sex in man.
CHROMOSOMAL DISOR DERS
(1) Down's Syndro me (Trisom y 21, Fig. 37)

It is also called "Mono golism" . The meiotic non-dis junction is the most commo n cause
oftrisom y (Down's syndrom e) of 21 st autosom e. A down's syndrom e will be 45A + XX/XY .
The parents of such children are normal in all respect s because these have normal karyotype.
The age of mot~er has a strong influen ce o:r;i the inciden ce ofDow n's syndro me. In the age
group of mother s below.t he age of20 years, only one in 1550 live births is having Down's
syndrome. Contrar y to this only 1 in 25 live births are having Down's syndrom e of mother s
older than 45 years of age. In80% of the cases, the extra chromosome is of matern al origin.
Clinica l featur es of Down Syndro mes are as follows :
l. Promin ent forehea d.
2· Flatten ed nasal·bridge.
3 • Habitua lly open mouth.