I

NTRODUCTI
ONTOGENETI
CS

KnowSomeTer
ms

 Gene–I
tist
hebasi
cuni
tofi
nher
it
ance.I
tconsi
stsofasequenceofDNA,
whi
ch
i
st hegenet icmat erial.Genescanmut at eandcant aket woormor eal ternati
ve
forms.
 Alleles–Theal ter nat i
vef ormsofgenes.Theyaf fectt hesamechar act eri
sticsor
traitsinal ter nat ef orms.Theyar el ocat edont hesamepl aceoft hechr omosome.
 Chr omosomes–Thesear et hread- l
ikest ruct uresmadeupofnucl eicaci ds( DNA)
andpr oteins.Theyar emost lyf oundi nt henucl eusoft hecel ls.Theycar rythe
her editaryorgenet ici nformat ionint hef or m ofgenes.
 Genot ype–I ti st hecompl eteher itablegenet icident ityofanor gani sm.I tisthe
setofal lelest hatar ecar ri
edbyt heor gani sm.I tal soi ncludesnon- expr essed
alleles.
 Phenot ype– I tist hedescr i
ptionoft heact ualphy si calchar acter i
sticsofan
organi sm ort heexpr essedf orm oft hegenot ype.
 Domi nantal leles–Whenanal l
eleaf fect st hephenot y peofanor gani sm,t henit
i
sadomi nantal lele.Capi talletter
sr epr esentdomi nantal lel
es.Forexampl e,“
T”
toexpr esst allness.
 Recessi veal leles– Anal l
elet hataf fect st hegenot y pei nt heabsenceoft he
domi nantal lelei scal ledar ecessi v eal l
el e.Smal ll et tersr epresentr ecessive
alleles.Forexampl e–“ t”f
ort all
ness.
 Homozygous – Each or ganism has t wo al leles f or ev ery gene ( Each
chr omosomehasoneeach) .Inhomozy gous,bot ht heal lelesar esame.For
Exampl e,“TT”i sthehomozy gousexpr essi onf ortall
nesst r
ait.
 Het erozygous–I ft het woal l
elesar edi fferentf rom eachot her,thent heyar e
het erozy gousi nnat ur e.ForExampl e,“ Tt”i st hehet er ozy gousexpr essionf or
tallnesst rait .
 Chr omosomesar et hread- l
i
kest ructur esl ocat edi nsi det henucl eusofani mal
andpl antcel ls.
 A chr
omosomeisathread-
li
kestr
uct
uremadeupofDNA.Chr
omosomesar
e
f
oundint
henucl
eusofeachcell
 Chr
omosomes ar
ethr
ead-
li
ke st
ruct
ures pr
esenti
nthe nucl
eus.They ar
e
i
mpor
tantbecauset
heycont
aint
hebasi
cgenet
icmat
eri
alDNA.
 I
nheri
tedtr
ait
sarecodedi
nourDNAandhencecanbepassedontot
henext
gener
ati
on.Exampl
e:ey
ecol
our
,hei
ght
,compl
exi
on,
hai
rcol
ouret
c.
 Her
edi
tyr
efer
stot ngoft
hepassi rai
tsorchar
act
eri
sti
cst
hroughgenesf
rom one
gener
ati
on(
par
ent
)tot
heot
hergener
ati
on(
off
spr
ing)
 Heredit
yorHer edi
taryistheprocessofpassingt hetrai
tsandcharacteri
sti
cs
fr
om par entstooffspri
ngsthroughgenes.Theoffspri
ng,getthei
rfeatur
esand
charact
er i
sti
csthatisgeneti
cinfor
mati
onf r
om thei
rmot herandfat
her.Heredi
ty
1
 andgenet
icsar
ether
easony
oul
ooksomuchl
i
key
ourpar
ent
s.

 Gr
egorMendel
-TheFat
herofGenet
ics

Acquiringchar
acteri
sti
csortrai
tsf
rom onegenerat
iont
otheotherisnothi
ngbut
i
nher i
tance.Here,bothparentscontri
but
eequallytotheinher
it
anceoft rai
ts.
GregorMendel ,also known astheFat herofGeneti
cs,conducted i
mmense
researchandstudiesonthi
sinheri
tanceoftr
ait
s.

He resear
ched on plant br
eedi
ng and hybr
idi
zat
ion and conduct
ed hi
s
exper
iment
sonpeaplantstoshowthei
nher
it
anceoftr
ait
sinli
vi
ngorgani
sms.

Mendel
’
sExper
iment
s

Monohy
bri
dCr
oss:

I
tisthecr ossbetweentwoplantswhi
chhaveonepairofcont
rast
ingchar
act
ers.For
Example,acr ossbetweenat al
lpeaplantandashort(dwar
f)plant
.Thefol
lowing
di
agram explai
nsthi
sindetai
l
.

Obser
vat
ions&Concl
usi
on

 I
nt hefir
stgener ati
on( F1),thepr ogenywer etall
.Ther
ewasnomedi um hei
ght
pl
ant.
 I
nthesecondgener ation(F2),1/4thoft heoffspri
ngwereshor
tand3⁄4weretal
l.
 ThePhenot ypicrati
oinF2–3: 1(3t all
:1shor t
)
 TheGenot y
pi crati
oinF2–1: 2:1–( TT:Tt:tt
)
 Foraplanttobet al
l,asinglecopyof“ T”isenough.Butifapl
anthastobeshort
,
boththecopiesshoul dbe“ t”
 I
nTt ,‘T’isexpr essedand‘ t’issuppr essed.Hence,thechar
acter
s‘T’isthe
dominanttraitand‘t’i
sther ecessivet r
ait.

2
3
Fi
gur
e1:Segr
egat
ionofpar
ent
sandF1gamat
esatdi
ff
erentgener
ati
onst
opr
oduce
Pr
ogeni
es.

Di
hybr
idCr
oss

Itisthecr ossbetweentwopl antswhichhavetwopairsofcontrastingcharacter

s.This
takesi nt
oconsi der
ati
onal t
ernati
vetrai
tsoft wodiff
erentchar
act ers.Forexampl e,a
crossbet weenonepeapl antwithroundandgreenseedsandt heot herpeaplanthav i
ng
wrinkledandy el
lowseeds.Thef oll
owingdi
agram expl
ainsthedi
hy bridcrossindetai
l.

Obser
vat
ions&Concl
usi
on

 TheF1gener ati
oncont ai
ns100% hy br
idpl ants.Because,whenRRy ycrosses
wit
hr rYY,alloff
spri
ngpl antsareRrYywi throundandy el
lowseedsinthefirst
generati
on.Therefor
e,theRoundandYel lowseedsar ethedominantchar
acters.
 I
nF2, thephenotyperati
oi s9:3:
3:1andt hegenot yper
ati
oi saver
ycomplexone.
 Thisshowst hatthegenesi ndependentl
yi nherit
ed.

4
5
Fi
gur
e2:
IndependentAssor
tmentofal
l
elesusi
ngt
hePUNNETTSQUARECHART

WhywasPeaPl
antSel
ect
edf
orMendel
’
sExper
iment
s?
Hesel
ect
edapeapl
antf
orhi
sexper
iment
sfort
hef
oll
owi
ngr
easons:

1.Thepeaplantcanbeeasil
ygrownandmai ntai
ned.
2.Theyar
enat ur
all
yself
-pol
li
nat
ingbutcanalsobecross-
pol
l
inated.
3.I
tisanannualpl ant
,ther
efor
e,manygener at
ionscanbestudiedwi
thi
nashor
t
peri
odofti
me.
4.I
thasseveralcontr
asti
ngcharact
ers.

Mendelconduct
ed2mainexperi
ment
stodet
ermi
net
hel
awsofi
nher
it
ance.These
exper
imentswere:
punet
techar
t

6
 1.Monohybr
idCross
2.Di
hybr
idCross

Whil
eexperimenti
ng,Mendelfoundthatcer
tai
nfact
orswer
eal
waysbeingtransf
err
ed
downtotheoffspr
inginastabl
eway.Thosefact
orsar
enowcal
l
edgenesi.
e.genescan
becal
ledtheunit
sofinher
it
ance.

Mendel
’
sExper
iment
s

Mendelexper i
ment
edonapeapl antandconsider
ed7maincont
rasti
ngtr
ait
sint
he
plants.Then,
heconduct
edbot
hexperi
mentstodetermi
net
hei
nheri
tancel
aws.Abr
ief
explanati
onofthet
woexper
iment
sisgivenbel
ow.

Monohy
bri
dCr
oss

I
nt hi
sexperiment,
Mendel t
ooktwopeaplant
sofopposit
etrait
s(oneshor tandonetal
l)
andcr ossedthem.Hef oundthefir
stgener
ationoff
spri
ngwer etallandcal l
editF1
progeny.ThenhecrossedF1progenyandobt
ainedbotht
allandshortplantsinther
ati
o
3:
1.

Mendelevenconduct
edt
hisexper
imentwi
thothercont
rast
ingt
rai
tsli
kegr
eenpeasv
s
yell
ow peas,r
oundvswri
nkl
ed,etc.I
nallthecases,hefoundthatther
esul
tswer
e
simil
ar.

Di
hybr
idCr
oss

I
nadi hybri
dcrossexper i
ment,Mendelconsideredtwotr
ait
s,eachhavingtwoalleles.
Hecrossedwr i
nkled-
greenseedandr ound-
yell
owseedsandobser vedthatal
lthefirst
gener
ati
onpr ogeny(F1pr ogeny
)wer eround-yel
low.Thi
smeantt hatdominanttraits
weretheroundshapeandy ell
owcolour.

Hethenself
-poll
i
nat edtheF1progenyandobtained4diff
erentt
rait
s:r
ound-
yel
l
ow,
r
ound-
green,
wrinkled-y
ell
ow,andwr
inkl
ed-
greenseedsi
ntherati
o9:
3:3:
1.

Afterconducti
ngresear
chf
orothert
rai
ts,
theresul
tswerefoundt
obesi
mi l
ar.Fr
om this
experi
ment ,Mendelfor
mul
atedhissecondlaw ofinher
it
ancei.
e.l
aw ofIndependent
Assortment.

Concl
usi
onsf
rom Mendel
’
sExper
iment
s

 Thegeneticmakeupoft heplanti
sknownast hegenotype.Ont hecontr
ary,the
physi
calappearanceoftheplantisknownasphenotype.
 Thegenesaret r
ansferr
edf r
om parent
stotheoff
spri
ngi npairsknownasal l
eles.
 Duri
nggamet ogenesiswhent hechromosomesarehalved,thereisa50%chance
ofoneofthetwoal l
elestofusewiththeal
lel
eofthegamet eoft heotherpar
ent .

7
  Whent heal l
elesaret hesame, theyar eknownashomozy gousal l
elesandwhen
theallelesaredi f
ferentt heyar eknownashet erozy gousal l
eles.
 LawofDomi nance
 Thisi sal socal l
edMendel ’sfi
rstlaw ofi nheritance.Accor di ngt ot hel aw of
domi nance,hy bri
dof fspringwi l
lonlyi nheritthedomi nanttraitint hephenot ype.
Theal lelesthatar esuppr essedar ecal l
edt her ecessivet r
aitswhi let heal l
eles
thatdet erminethetr aitareknownast hedomi nantt rait
s.
 LawofSegr egati
on:Thel awofsegr egat i
onst atest hatduringt hepr oduct i
onof
gamet es, twocopiesofeachher editarytrait
ssegr egatesot hatof f
springacqui re
onet raitfrom eachpar ent .I
not herwor ds,al l
ele( alt
ernati
v ef orm oft hegene)
pair
ssegr egatedur ingt hef ormat i
onofgamet eandr e-
uniter andoml ydur i
ng
fert
il
ization.Thisisal soknownasMendel ’sthir
dl awofi nheritance.
 Law ofI ndependentAssor tment:Al so known as Mendel ’
s second l aw of
i
nheritance,t he law ofi ndependentassor tmentst ates thata pai roft r
aits
segregat es independent l
yofanot herpai rdur i
ng gamet ef ormat ion.As t he
i
ndividualher edit
yt rait
s assor ti ndependent ly,di ff
erent t raits get equal
oppor t
uni t
ytooccurt oget her.

Sex-Li
nkedTr ait
s
Inhumans,aswel lasinmanyot heranimal
sandsomepl ants,thesexoft heindi
vidual
i
sdet erminedbysexchr omosomes—onepai rofnon- homologouschr omosomes.Unt i
l
now,wehav eonlyconsideredinherit
ancepat t
ernsamongnon- sexchromosomes,or
autosomes.I nadditi
ont o22homol ogouspairsofaut osomes,humanf emaleshav ea
homol ogouspairofXchr omosomes,wher eashumanmal eshav eanXYchr omosome
pair
.Al though the Y chromosome cont ains a smal lregi
on ofsi mi l
ari
tytot he X
chromosomesot hattheycanpai rduri
ngmei osis,t
heYchr omosomei smuchshor ter
andcont ainsfewergenes.Whenagenebei ngexami nedi spresentont heX,butnotthe
Y,chromosome, i
tisX-li
nked.

I
nsectsalsofoll
owanXYsex -det
erminati
onpatt
ernandli
kehumans, Dr
osophi
lamales
haveanXYchr omosomepairandf emalesar
eXX.Ey ecol
ori
nDr osophi
lawasoneof
thefi
rstX-l
inkedtr
ait
stobeidentif
ied,andThomasHuntMor ganmappedt hi
str
aitto
theXchromosomei n1910.

Eyecol orinDr osophi l

a,thecommonf ruitf
ly,wast hefir
stX-l
inkedtrai
ttobei denti
fied.
ThomasHuntMor ganmappedt histr
aittot heXchr omosomei n1910.Li kehumans,
Drosophi l
amal eshav eanXYchr omosomepai r,andfemalesar eXX.Inf l
iesthewi l
d-
typeey ecolori sred( XW)andi sdomi nanttowhi teeyecolor( Xw)(Fi
gure3).Because
oft hel ocat
ionoft heey e-col
orgene,r eciprocalcrossesdonotpr oducet hesame
offspri
ngr ati
os.Mal esar esai dtobehemi zygous,inthattheyhav eonlyoneal lel
ef or
any X- l
inked char acteristic.Hemi zygosit
y makes descr iptions ofdomi nance and
recessivecondi ti
oni rr
elevantf orXYmal es.Drosophil
amal eslackthewhitegeneont he
Ychr omosome;t hatis,t heirgenotypecanonl ybeXWYorXwY.I ncontrast,femal es
hav etwoal l
elecopi esoft hi sgeneandcanbeXWXW, XWXw, orXwXw.

8
Fi
g3:I
nDr
osophi
l
a,thegeneforey
ecol
ori
slocat
edont
heXchr
omosome.Redey
e
col
ori
swi
l
d-t
ypeandisdominantt
owhi
teeyecol
or.

InanX- li
nkedcr oss,thegenot ypesofF1andF2of f
springdependonwhet herthe
recessivet r
aitwasexpr essedbyt hemal eort hef emalei nt heP gener at
ion.Wi th
respectt oDrosophi l
aeyecol or,whent hePmal eexpr essest hewhi te-
eyephenot y
pe
andt hef emalei shomozy gousr ed-ey ed,al lmember soft heF1gener ati
onexhi bitr
ed
eyes( Figure3).TheF1f emalesar ehet erozygous( XWXw) ,andt hemal esar eallXWY,
havingr eceiv
edt hei
rXchr omosomef rom t hehomozy gousdomi nantPf emal eand
thei
rYchr omosomef rom thePmal e.Asubsequentcr ossbet weent heXWXw f emal e
and t he XWY mal e would pr oduce onl yr ed- eyed f emales (wi h XWXW orXWXw
t
genoty pes)andbot hred-andwhi t
e- eyedmal es( withXWYorXwYgenot ypes).Now,
consideracr ossbet weenahomozy gouswhi te-ey edf emaleandamal ewi thredey es.
TheF1gener ationwoul dexhibitonl yhet erozy gousr ed-eyedf emales( XWXw)andonl y
white-eyedmal es( XwY).Hal foft heF2f emal eswoul dber ed-eyed( XWXw)andhal f
woul dbewhi te-eyed(XwXw) .Simi l
ar ly,halfoft heF2mal eswoul dber ed-eyed( XWY)
andhal fwouldbewhi teeyed( XwY) .

Fi
gur
e4:
Crossesi
nvol
vi
ngsex-
li
nkedt
rai
tsof
tengi
ver
iset
odi
ff
erentphenot
ypesf
or
9
thedif
fer
entsexesofoff
spr
ing,asi
nthecasef
orthi
scr
ossinvolv
ingr
edandwhit
eeye
colori
nDrosophil
a.I
nthedi
agram,wisthewhi
te-
eyemutantal
lel
eandW i
sthewil
d-
type,r
ed-
eyeall
ele.

Discoveriesinfruitflygeneticscanbeappl i
edt ohumangenet ics.Whenaf emale
parentishomozy gousf orar ecessiveX- l
inkedtrait
,shewi l
lpasst hetraitont o100
percentofhermal eoffspri
ng,becauset hemal eswi l
lrecei
v etheYchr omosomef r
om
themal epar ent
.I nhumans,t heallelesforcer t
aincondi t
ions( somecol or-
bli
ndness,
hemophi li
a,andmuscul ardyst r
ophy)ar eX-li
nked.Femal eswhoar ehet
erozygousf or
thesedi seasesar esaidt obecar ri
er sandmaynotexhi bitanyphenot ypi
cef fects.
Thesef emaleswi l
lpasst hedi seasetohalfoft heirsonsandwi l
lpasscar r
ierstatusto
halfoft hei
rdaught er
s;therefore,X-l
inkedt r
ait
sappearmor efrequentl
yinmal est han
females.

Insomegroupsoforganismswithsexchromosomes,thesexwitht
henon-homologous
sexchromosomesi sthefemalerat
herthanthemale.Thisisthecaseforal
lbir
ds.In
thi
scase,sex-
li
nkedtr
ait
swi l
lbemor el
ikel
ytoappearinthefemale,i
nwhom theyare
hemizy
gous.

MUTATI ON:i
sachangeintheDNAsequenceofanor gani
sm.Mut
ati
onscanresult
f
rom errorsi
nDNA repl
i
cat
iondur
ingcel
ldiv
isi
on,exposur
etomutagensorav i
ral
i
nfect
ion.

A mutati
on is a sudden,her
it
abl
e modifi
cat
ion i
n an or
gani
sm'
str
ait
s.The t
erm
mut
“ ant”ref
erstoaper sonwhoexhi
bit
stheseher
it
able.

Mutati
onsresul
teit
herfr
om error
sinDNAr epl
i
cat
ionorfr
om t
hedamagi
ngeffect
sof
mutagens,suchaschemi cal
sandr adi
ati
on,whi
chreactwi
thDNA andchanget he
st
ructur
esofindi
vi
dualnucl
eoti
des.

10
Fi
gure5:A kar
yot
ypeofahumanmal ewithDownsy ndr
ome,i
e.Di
ploi
dst
ateof
chr
omosomesinman(2n=23+1)wi
thanext
rachr
omosome.

Examplesofhumanaut osomalMendel
ian t
rai
tsi
ncl
ude;albi
nism andHuntingt
on'
s
sease.Exampl
di esofhumanX-li
nkedt
rai
tsi
ncluder
ed-
greencol
ourbli
ndness.

11