Genet

ics

GENETICS
Genet
icsist hescienti
ficstudyofher edit
yandv ari
ati
onsbet weenorganismswhi l
e
i
nheri
tance descr
ibes how t he simil
ari
ti
es ar
et r
ansferred f
rom the par
entt othe
off
spr
ing.Thesimilari
ti
esar ei
nform ofcharact
eri
sti
cssuchasski ncol
our,i
ntel
l
igence,
hei
ghtandmanyot her
s.
Mendelwast hefi
rstscient
isttostudygeneti
csandinheri
tance.

Categori
esofvari
ation
Therear etwoty pesofgenet icvari
ations.
1.Cont i
nuousv ariati
ons.
Thesear evari
at i
onst hatshow agr adualchangei nindi
vidualswi t
houtacl ear
-cut
divi
sionbet weent het woext r
emes.I tr
esul
tsintof ormat
ionofi nt
ermedi
ates.Such
vari
ationsincl
udehei ght,i
ntel
li
gence, ski
ncolour
,yieldi npl
ants,etc.I
nsuchv ari
ati
ons,
organismsar eusual l
yv erymanyar oundthemean/ av eragepoint
.

2.Di
sconti
nuousv ari
ati
on.
Thi
sisav ari
ati
on,whi chshowsacl ear
-cutdi f
ferencebetweenthet woextr
emes
wit
houtint
ermediates.Thi
sresult
sintoexpressionofonl ytwophenoty
pes.Exampl
es
ofdi
sconti
nuousv ari
ati
onsi
nclude,t
ongueroll
ing,bloodgroups,
sex,
etc.

Causesofv ar
iation
Some v ari
ationsar einher i
ted and are call
ed inher i
ted v ar
iati
onswhi l
e other
sare
occupi
edasar esultoftheenv i
ronmenthencecal ledenv i
ronment al v
ari
ati
ons.
Examplesofi nheritedvariati
onsar ebloodgroups, eyecol our,albi
nism,hai
r,et
c.
Examplesofenv ir
onment alvar
iati
onsar eknowledge, etc.
Env ir
onment alf
actorsthatcausev ariati
ons
 Di et  Al ti
tude
 Pat hogens  Li ght
Factor
st hatcauseinheritedv ari
ati
ons
 Mut ation
 Cr ossingov er
 Fer t
il
ization
Termsusedi ngenet i
cs.
1.Chromosome.Thesear ethread-l
ikestructuresbear inggenesandl ocat
edinthe
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 Genet
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nucl eus.
2.Chr omat id.Thi si shal fofachr omosomespl itlongi tudinally.
3.Biv alent.Thi sisapai rofhomol ogouschr omosomes.
4.Gene.Thi si sauni toft heher edi tabl emat erialf oundont hechr omosomeand
responsi bl ef orcont rollingapar ticul art rait/char act er.
5.Allele.Thi si st heal ter nat i
vef or m oft hesamegene.Mostgenesar emadeupoft wo
all
el es.Al leles oft he same gene ar er epr esent ed byt he same l ett
erbutt he
domi nantal leleisr epr esent edbyacapi tall etterandt her ecessi veal l
elebyasmal l
letteri nt hecaseofdomi nant -recessi v echar act ers
6.Dipl oid.Thi si sadescr ipt i
onofacel l
, whi chhasawhol esetofchr omosomes.
7.Hapl oid.Thi sr eferst oacel l wi thhal ft hesetofchr omosomes.
8.Genot y
pe.Thi sr efer st ot hegenet i
ccomposi ti
onofanor gani sm.
9.Phenot ype.Thi si st he phy si calappear ance ort he out war d expr essi
on ofan
indiv i
dual .
10.
Domi nantgene/ domi nantal lel e.Thi si sadescr ipt i
onofagene/ allel
ewhoseef f
ect
isseeni nt hephenot y peoft hehet erozy gousi ndi vidual.Theef fectoft hedomi nant
gene/ all
el ei sseeni nt hephenot ypeev eni nt hepr esenceofanot hergene/ al
lel
e.
11.
Recessi v e.Thi si sa descr ipt i
on ofa genewhoseef fecti snotphenot y
picall
y
expr essedi nt hehet er ozy gousst ate.Theef fectofar ecessi vegene/ all
eleisnot
seeni nt hepr esenceofanot her( domi nant )gene/ allele.
12.
Homozy gous.Thi sr ef er st oagenewi t
ht woi dent i
calal lelesf orexampl eifT
repr esent st hegenef orhei ghtwher et al l
nessi sdomi nantt oshor tnesst hent he
all
el ef ort allnessi sTandt hatf orshor t
nessi st .ani ndividualwi thTTi ssaidtobe
homozy goust allandt tissai dt obehomozy gousshor t.
13.
Homozy gousdomi nant .Thi si swher ebot hal lelesofagenedet ermi neadomi nant
char act er .
14.
Homozy gousr ecessi v e.Thi si swher ebot hal lelesofagenedet ermi near ecessive
char act er .
15.
Het er ozy gous.Thi sr ef erst oagenewi tht wodi ff
erental l
elesf orexampl eifT
repr esent st heal lelef ort allnessandtf orshor tnesst henTti st hehet er
oz ygous
stat eoft hisgene.
16.
Hy br i
d.Thi si sanof fspr ingpr oducedbypar ent soft wodi fferentpur elines.
17.
Incompl et edomi nance.Thi si sacondi t
ionwher enei theroft hegenesi sdomi nant
ov ert heot her .
18.
Gamet es.Thesear er epr oduct iv ecel ls.
19.
Fer til
ization.Thi sist hef usionoft hemal eandf emal egamet est of orm azy gote.
20.
Monohy br idi nher i
tance.Thi si sat y peofi nher i
tance,whi chi nv olvesst udyinga
singl epai rofcont rast ingchar act erist i
cs.
21.
Dihy br i
di nher itance.Thi sisat ypeofi nher i
tance,whi chi nvolvesst udy i
ngtwopai r
s
ofcont rast ingchar act eristicsatago
22.
Testcr oss
Thi si sat ypeofbackcr osswhi chi nv ol vescr ossi nganof fspr i
nghav i
ngadomi nant

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 Genet
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charact
erwit
hitsr
ecessi
veparenti
nordert
odeter
minethet
estoft
hatof
fspr
ing.
23.
Backcross
Thisist
hemat i
ngofanoffspr
ingwi
thoneofit
sparent
s.

MENDEL’ SEXPERI MENT

Forhisexper imenthecol lectedoneoft hev ariet
iesofgar denpeas( pisum sati
vum)
withcontrastingf eaturessuchasonev ari
etywaspr oducingt al
lplant
swhenst emsare
about200cm andanot hershor tplantwit
hst emsof25cm.Hecr ossedt heseplant
sfor
hisexperiment s.
Hecr ossedpur et al
lpeapl antswi thpureshor tpeapl antsandal ltheof fspri
ngswere
tal
l(F1gener at i
on)
Tall
nesswast hedomi nantchar acterandshor tnessther ecessivecharacter.
The domi nantchar act erisr epresented using a capi tallett
erwhi let he r
ecessi
ve
characterisrepr esentedusi ngasmal llet
ter
.
LetTr epresentt hegenef ort all
ness
Lettrepresentt hegenef orshor t
ness

Off
spri
ngphenotype:Al
ltal
l
Mendelthenself
edtheplantsoft
heF1gener
ati
onandobt
ainedanF2gener
ati
onwi
th
t
allandshortpl
antsi
nar at
ioof3:
1

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 Genet
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Genoty
picrati
o;TT:
Tt:tt=1:
2:1
Phenoty
picrati
o;3t
all
:1short
Mendel’sconcl usions
Mendelsuggest edthefol
lowi ngtoexplainhi sresults.
1.Gamet es like poll
en gr ains and ov ules oft he gar den peas carr
y charact
ers
deter
mi ningf act
orsthroughwhi chresembl ancei spassedonf r
om onegener at
ion
tothenext .
2.Achar acterl i
keheightoft hegardenpeai scont rol
ledbyapai rofgenes.These
separatedur ingformationofgamet esandonl yonegoesi ntoeachgamet e.This
meanst hatonl yhalfoft heusualnumberofgenesi spresentint hegametes.
Howev ert henor malnumberi srestoredatf erti
li
zationbyt hef usi
onoft hetwo
gamet es
3.Henamedagenedet ermi ni
ngadomi nantchar acterasadomi nantgeneandone
deter
mi ning a recessive characteras a r ecessiv e gene.I n hi
sr epr
esentat
ion
dominantgeneswer egi vencapi t
allet t
ersandr ecessi vegeneswer egivensmall
let
ters.

Mendel ’
slawsofinheri
tance
From hisobservations,Mendelputupt wol awsofinheri
tance.
Fi
rstlaw: Thelawofsegr egati
on.
Thislawst at
est hatthecharacterofanor gani
sm isdeterminedbyapai
rofall
eles.Onl
y
onealleleofsuchapai riscarri
edinagamet e.
Secondl aw:Thel awofindependentassor tment.
Thisst atesthateachoft heal l
elesinapai rmaycombi newi t
hanotheral
lelefrom
anotherpairrandoml y.

Conclusionsf
rom Mendel’
s’cr
osses.
1.A charactercan betransmi t
ted f
rom parentto off
spri
ng i
ndependentofot
her
charact
ers.
2.Genesoccurasapai rofal
leles.
3.Onlyoneal l
eleoft
hesamegenei scar
ri
edinasinglegamete.

MONOHYBRI DINHERI TANCE

I
nheri
tanceisthepassi ngoverofchar acteri
sti
csoft heparent
st othei
roffsprings.
Monohybri
dinher i
tanceinvolvesthestudyofhowonechar act
erisinher
it
edf rom the
par
entstotheof fsprings.Mendel car
riedoutsev er
al exper
imentsonpeast ost udy
monohybri
dinher i
tance.
Mendelchosegar denpeasf orhisexper i
ment sbecauseoft hefoll
owingreasons:
1.Theygrowv eryfastandproducer esultsinav er
yshor tper
iodoftime.
2.Theyarer el
at i
vel
ysmal landcanbegr ownonasmal lpl
otforstudypurposes.
3.Someoft heircharacter
sar econtr
ol l
edbysi ngl
egenes, whichmakei teasyt ostudy
them.

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 Genet
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4.Theyhavecharacteri
sti
cs,whi
chshow clear
-cutdif
fer
enceswi
thouti
nter
medi
ates
l
iket
allandshor
t,greenandyel
lowcot
yledons,etc.

Het
her
efor
econcl
udedt
hatt
hei
rrepr
oduct
ioncanbemani
pul
atedbypol
l
inat
ion.

Questi
ons:
Whatwoul dbet heof f
spr i
ngsforacr ossbet
weenhomozy gousbl ackandhomozy gous
brown.TakeBf orblackandbf orbrown.
Letthegenef orbl
ackf urber epr
esentedbyBandt hatforbrownb.
Note.
1.I ti
sonegenecont r
olli
ngachar acter
,whi
chisfurcolour.Forthisreasonweuset he
samel et
ter
2.Bl ackcolourisdomi nantthatiswhyweuse( B)andbr owni srecessive(b)
3.Thet erm pure-breedingisusedt omeanhomozy gousf orthatparti
culargene.
Crosses.

Off
spri
nggenot ype:al
lBb (heterozy
gous)
Off
spri
ngphenot ype: al
lblack.
Theyare allblackbecause bl ackis dominantt
o brown and i
tshows up i
nthe
het
erozygousstate.
Consi
derSelfi
ngofF1( cr
ossingt wooff
spri
ngsofF1above)
.

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 Genet
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F2phenotypi
crati
o.3bl ack:1br
own
3:1
Exampleii
Considerageneforhei
ghtingardenpeas.Tal
lnessi
sdomi nantovershortness.
Letthegenefortall
nessber epr
esent
edbyTandt hatforshort
nesst .showt hecr
oss
betweenpure-
breedi
ngtallpeaandapure-br
eedingshor
tpea.

F1phenot
ype.Al
loff
spri
ngsar
etal
l
.
Sel
fi
ngofF1producesF2wit
haphenot
ypi
crat
ioof3t
all
to1br
own.(
3:1)

Monohy
bri
dinher
it
ancei
nhumanbei
ngs
1.Al bi
nism
Thisisaconditi
oninhumanbei ngswheret
hei
ndi
vi
dual
fai
ltopr
oduceski
npi
gment
s
call
edmel ani
n.
Albi
noshav e;
 Lightskin
 Whi tehair
 Pinkey es
 Theyar esensi
ti
vetobrightli
ght
Albi
nism iscausedbyarecessivegene.
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 Genet
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Examples
1.Whatwoul dbetheof fspr
ingsi
fanalbi
nomar r
iesanormalperson?
LetArepr
esenttheall
elefornormalski
ncol
our
Letarepr
esentt
heallel
ef ornoski
ncolour
Genotype Phenoty
pe
AA Normal ski
ncolour
Aa Car
r i
erforal
bini
sm
aa al
bino

Al
ltheof
fspri
ngswi
ll
becar
ri
ersofal
bini
sm
2.Whatwouldbetheof
fspri
ngswhen2i ndi
vi
dual
swhoar
ecar
ri
ersofal
bini
sm get
marri
ed?

Genoty
picrati
o;1normal
:2car
ri
er:
1al
bino
1:2:
1
Phenoty
picrati
o;3:1

Assi
gnment
:
I
npeas, yel
l
owseedcolouri
sdominantovergreenseedcolor
.Whatwouldbet
he
phenotypeoft
heoffspr
ingi
fat
ruebreedi
ngy ell
ow-seededpl
anti
scrossedwi
tha
green-
seededplant
?

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 Genet
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BACKCROSSORTESTCROSS
At estcr ossisusedt odisti
ngui shbet weenhomozy gousandhet erozygousdomi nant
forms.Thi siswhenanF1i ndividual witht
hephenot ypeofthedomi nantparentis
crossedwi ththerecessivepar enttodet er
mi nethephenotypeoft hepar ent.
IftheF1i shomozy gousdomi nant ,
alltheoffspringswil
lshowt hedomi nantchar acter
.
IftheF1i ndi
v i
dualsareheterozy gous,a1:1r at
ioofdomi nantorrecessiv echaract er
sis
obtained.E. g.
LetTr epresenttheallel
efortal l
ness
Lettr epresentt heall
eleforshor tness

Twoof
fspr
ingswi
l
lbehet
erozy
goust
all
and2wi
l
lbehomozy
gousshor
t.

Al
lar
ehet
erozy
goust
all

Question:
Thef r
uitfly( dr
osophi l
amel angaster)usual l
yhaswi ngstwiceasl ongasi t
sabdomen
butsomedr osophi l
ahav everyshortorv estigialwi ngs.Alongwi ngeddr osophi l
a(male)
wascr ossedwi thav estigi
alwingedf emal edr osophi laandalltheF1of fspringswer e
l
ongwi nged.Thel ongwi ngedF1gener ationwer et henmat ed.
i) Howcant hecr ossber epresent eddi agrammat i
cal
ly
ii
) Statethephenot y
pesoft heoffspr i
ngsi nt heF2gener ationandst atetheir
genoty pi
cr atio.
ii
i
) Whati st heper centageoft hev estigialwi ngeddrosophilaf l
i
esi ntheF2
generat i
on?
iv
) Adr osophi laisnormal l
yusedi nexper iment sonheredity, whydoy out hi
nkit
i
ssui tablef orsuchexper i
ment s.
Soluti
on:
LetLr epresentt heal lel
ef orlongwingandl representt heall
eleforv estigi
alwi ngl
Thel ongwi ngedf emal ecanbeLLorLlbecausel ongwingedi sdomi nantt oshort

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 Genet
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wi
nged.
i
)

F1phenot
ype.Al
ll
ongwi
nged.

i
i
)

Oneoftheoffspringswi llbehomozy gouslongwi

nged
Twoofthem willbehet erozygouslongwinged
Oneofthem wil
lbehomozy gousshor twi
ngedorvest
igi
alwi
nged
Genot
ypicrat
io;1:2:
1
i
ii
) ¼x100=25%
i
v) I t’sbecauset hey:
 Hav econt rast
ingcharacter
s
 Hav eshor tli
fespan
 Showcl earcutdiff
erences.

Question:
I
ncat tle,thegeneforhor nl
esscondi t
ioni sdominantoveroneforhor
ns.A pure
hornl
esscowwasmat edwithahor nedbull
.Usinggenet
icsymbol
s,showt
hepossi
ble
phenotypeandgenotypeoftheF1of fspr
ing.
Solut
ion:
Lethrepr esentt
heal
l
eleforhornedconditi
on.
LetHr epresentt
heal
lelef
orhornlesscondit
ion

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 Genet
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Al
lwer
ehor
nedcows.

Question:
A bullwhosehor nswereremov edwasmat edtoahornedcow.Show thepossi
ble
genotypesandphenot
ypesoft heF1of fspri
ngs.Gi
vear
easonfory
ouranswer.
Solut
ion:
Lethrepresentt
heall
elef
orhor nedconditi
on.
LetHr epr
esentt
heall
eleforhornlesscondit
ion

Allar
ehorned
Note:Becausethebullwi
thcutoffhor
nsst
il
lhast
hegenesf
orhor
nedandcut
ti
ngof
f
thehornsdoesn’
tchangethegenes.

Sexdet ermi nat

ioni
nhumanbei ngs
Ther eare23pai rsofchr omosomesi neachcel lofthehumanbody .Onepair
determinest hesexoft hei ndividualandt heyarecalledsexchromosomes.
Ther earet wosexes,i .e.mal eandf emale.Thegenecont r
olli
ngsexiscarri
edinthe
reproductiv
ecel lsont hesexchr omosomes.Ther earet wosexchr omosomestheX
chromosomeandt heYchr omosome.Thesechr omosomesoccuri napai
rtodeter
mine
thesexofani ndivi
dual
.Eachgamet ecar r
iesoneoft hesexchromosomes.
Inmal essomeoft hesper mscont aintheXchr omosomewhi l
esomecont ai
ntheY
chromosome.Yonl yoccur si nmal es.
Infemal esalltheeggscont aint heXchr omosome.
Atf ert
il
izat
ion,asper mf useswi ththeegg.I ftheXsper mf useswithanegg( X),t
he
resulti
ngof fspri
ngi sXX andi saf emale.IfaYsper mf useswi t
hanegg( X)
,the

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 Genet
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resulti
ngi ndi
vi
duali
sXYandi samal e.Theref
orethemal edeter
minesthesexoft he
offspring.Thi
sisbecausethemalepr oducestwodi f
fer
entsperms(XandY)whi l
ethe
femal eproducesonl
yeggswithXchr omosomes.
Not e:TheYsper msaremoreacti
veandper si
stentthantheXsperms.Thisincr
eases
thechancesofanov um tobefert
il
izedbyaYsper m.Sot oevery100gir
ls,120boysare
bornbutmor eboyst
hangir
lsdieatthetimeofbirth.
I
llustrati
on:

Phenotypi
cr ati
o; 2boy s:2girl
s
SEXLI NKEDTRAITS/CHARACTERS
Thesearet rai
tsorgenesassoci atedwit
hthesexoft heindiv
idual
.Thesechar act
ersar
e
carri
edont hesexchr omosomesandar econtr
olledordet erminedbyt hegeneson
thosechromosomes.Suchchar acter
sappeari
nar ecessiveform hencearevery
commoni nmal est haninfemales.Suchcharactersinclude;
 Col ourblindness
 Haemophi l
ia(bleederdi
sease)
 Etc.

Inheri
tanceofcolourbli
ndness
Colourbl
i
ndnessisadefectoftheey escausedbyar ecessivegeneontheX
chromosome.
Example
LetBrepresentt
heal
lel
efornormal colourvi
sion
Letbrepresentt
heal
lel
eforcolourblindness
Genoty
pe Phenot
ype
B B
XX Normal female
B b
XX Carri
erfemal e
b b
XX Colourblindfemale
B
XY Normal mal e
b
XY Colourblindmale

Quest
ion:
i) Whatwoul
dbetheof
fspringswhenacar
ri
erf
emal
eforcol
ourbl
i
ndnessmar
ri
es
amalewit
hnor
malcolourvi
sion?

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 Genet
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ii
)Wr it
ethegenot
ypicrati
ooftheoffspri
ngsandmakeacommentoft
hei
r
condi
ti
on.
Soluti
on:
LetBr epr
esentt
heall
elefornormalcol
ourvisi
on
Letbr epr
esentt
heall
eleforcol
ourbli
ndness.

Genot
ypi
crati
o2:1:1
2wil
lbenormal gi
rl
s(females)
1wil
lbenormal boy(male)
1 wil
lbecarri
ergirl(
female)
1wil
lbecolourbli
ndboy( male)
Assi
gnment:
Whatwoul
dbet heoffspri
ngifacolourbl
i
ndwomanmar
ri
esanor
mal
man?

Inheri
tanceofhaemophili
a(bleederdisease)
I
ti sadi seaseinwhichbl oodtakesalongt i
metoclotatawound.I ti
salsoknownas
thebl eeder’sdi
sease.Thisdiseaseiscausedbyar ecessivegenewhi chiscar
ri
edon
theXchr omosome.
LetHr epresentt
heallel
ef ornormalbloodclot
ti
ng
Letbr epr
esenttheallel
ef orhaemophili
a
Genot y
pe Phenotype
H H
XX Normal female
H h
XX Carr
ierfemale
h h
XX Haemophi li
acfemale
H
XY Normal male
h
XY Haemophi li
acmal e
Quest ion:
Whatwoul dbetheoffspr i
ngsifanormal womanmar ri
esahaemophi li
acman?
Sol uti
on:
LetHr epresentt
heallel
ef ornormalbloodclot
ti
ng
Lethr epr
esenttheall
elef orhaemophili
a

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2car
ri
erf
emal
es:
2nor
mal
mal
es
Sexl i
mitedt r
ait
s
These ar e char acteristics t hat onl y show i n one sex e.g.secondar y sexual
characterist
ics,hairypi nna,et c.
Sicklecellanaemia
Iti
sduet oamut ati
onofagene.Aper sonsuf f
eri
ngf r
om si
ckl
ecellanaemiahasa
defecti
vet ypeofhaemogl obin.I ti
scausedbyar ecessiv
egene.
Whent heconcent rationofoxy genislowi nblood,theredbl
oodcellsassumet heshape
ofasickl e.Becauseoft his,t
her edbloodcellscannotabsorboxygenproperl
y.
Thisisaher edit
arydi seaseandcanbepassedont othechi
ldr
enbyt heparent
sint hei
r
gamet es.Sicklecel lanaemi ahasaf ataleff
ectonpeopl ewhoarehomozy gousfort hi
s
mut at
edgene.
Peoplewhoar eheter ozy gousi .e.t
heyhav emut atedandnon-mutatedgeneshav e
normal redbl oodcel l
s.

Example:
LetBrepr
esentt
heal
lel
efornor
malRBC
Letbrepr
esentt
heal
lel
eforsi
ckl
eshapedRBC
Genoty
pe Phenot
ype
BB NormalRBC
Bb Normalbutcar
ri
er
bb Si
ckleshapedRBC

Question:
Anor malmalemar r
iedacarr
ierfemal eforsi
ckl
ecel
lanaemi
a.Det
ermi
net
he
phenotypeandgenot y
peofthechi l
dren.
Solut
ion:
LetBrepresentt
heall
elefornormal RBC
Letbrepresentt
heall
eleforsickl
ecel l

Ar
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 Genet
ics

Assi
gnment
:
Anormalmalewhosemot herhadsickl
ecellanaemiamar
ri
edacar
ri
erf
emal
e.What
per
cent
ageofthei
rchi
l
drenhadsickl
ecellanaemia?

EXCEPTIONSTOMENDELIANINHERITANCE
Thef
oll
owingdonotconf or
mt ot
hepr
ocessofi
nher
it
anceasil
l
ust
rat
edbyMendel
.
1.Linkage
2.Incomplet
edomi nance.
3.Co-dominance
4.Mul t
ipl
eall
eles.

CO-DOMI NANCE
Thisisaconditi
onwher egenesdeterminingapar ticul
archar
acterallshowupsucht hat
thephenotypeoft heoffspri
ngisami xtureoft hatoft heparents.Itmai nl
yoccur sin
animals.
Co-dominanceiswher eintheheter
ozygousst at
enei t
herall
eleiscompl etel
ydomi nant
overt he ot
heri .
e.the 2 allel
es are co-domi nant.Thisresultsi nt he phenotype
i
ntermediate between the parent
’s appear ances.The al l
eles foreach t rai
tar e
repr
esentedwithdiff
erentcapit
all
ett
ers.

Questions:
1)I nani mals,thegenesf orf
urcolourareco-
domi
nant
.Whatwi
l
lbet
heof
fspr
ings
whenar edbul l
iscrossedwithawhitecow?
Soluti
on:
LetRr epresenttheall
eleforredbull
LetW r epresenttheal
leleforwhit
ecow

Ar
thurKugonzaH
46
 Genet
ics

F1phenot
ype:
all
theoffspri
ngswi
llber
oan.
2)Whatwouldbetheoffspri
ngsi
nthe2ndgener
ati
on?

F2phenot
ype:
1red,
2roanand1whi
te.

I
NCOMPLETEDOMI NANCE
Thisisaconditi
onintheheterozygouswher enei
theroftheall
elesisdominantoverthe
otherandthephenotypeoftheof fspr
ingi sanint
ermediatebetweenthatoftheparents.
I
tmai nl
yoccursinplant
s.
Forexample,consi
derpetalcolourinflowers:whenar edfloweredplanti
scrossedwith
awhi t
efl
oweredplant,t
heoffspringspr oducedareall
pinkcolouredpetal
flowers.

Example:
LetRrepresenttheal
l
eleforr
edpet
alcol
our
.
LetW representt
heall
elef
orwhi
tefl
ower
s

Ar
thurKugonzaH
47
 Genet
ics

F1phenot
ype:
all
pinkpet
als.

ThenSel
fi
ngF1.(
Crossbet
weenof
fspr
ingi
nF1)

F2phenot
ype:1red,2pi
nkand1whi
te.
F2Phenot
ypicr
atio:
1red:2pi
nk:
1whit
e.(
1:2:
1)

MULTI PLEALLELES
Thi
siswher
eonecharact
erisdeter
minedbymor et
hantwoal
lel
es.Thisimpli
esthata
si
ngl
egenecont
ainsmorethant
woal l
eles.Anexamplei
sbl
oodgroupinheri
tance.

I
nheri
tanceofbl oodgr oups
Thegenecont roll
ingbloodgr oupsismadeupoft hreedifferentall
eles(multipl
eallel
es).
Theseall
elesar eA, BandO.Thei nheritanceofbl oodgr oupsi sal
soanexampl eofco-
dominance.Ther eare4bl oodgr oupsthati sgr oupA, B, ABandO.t heall
elesforblood
A B O O A B A B
groupsarer epresentedasI,IandI.I i sr ecessiv
et oI andI.I andI ar eco-
dominant.Ani ndivi
dualinher i
tstwooft heseal l
elesonef rom eachpar ent.Thet abl
e
belowshowst hepossi bl
ebl oodgroupst hatcanar isefrom thedifferentgenotypes.
Genot ype(all
eles) Bloodgr oup( phenotype)
AO
II A
AA
II A
BO
II B
BB
II B
AB
II AB
OO
II O

Exampl e:
Wor koutt hepossiblebl
oodgroupsoft
heoffspr
ingsproducedi
famanofbl oodgroup
Amar ri
esawomanofbl oodgroupAB
Soluti
on:
AO AA A
Themancanhav etwopossibl
egenoty
pes,i
.e.II andI I.Thi
sisbecauseall
eleI i
s
O
domi nanttoall
eleI .
AA
Consi der
ingthecasewher et
hemani sII

Ar
thurKugonzaH
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 Genet
ics

Of
fspr
ingphenot
ype:
2bl
oodgr
oupAand2bl
oodgr
oupAB

AO
Consi
der
ingt
hecasewher
ethemani
sI I

Of
fspr
ingphenot
ype.2hav
ebl
oodgr
oupA,1hasbl
oodgr
oupABand1hasbl
ood
gr
oupB

Assi
gnmentone:
a)Whatismeantbygenot
ype? (
01mar
k)
b)AmanofbloodgroupA,marr
iedawomanhomozy
gousf
orbl
oodgr
oupBandt
hey
pr
oducedasonofbloodgr
oupB.
i
) Wor
koutt
hegenot
ypesoft
hef
atherandoft
heson. (
04mar
ks)
i
i
)Thesonmar r
iedawi feofbloodgr oupO.Show y
ourwor
kingandgi
vethe
per
cent
agesofthepossi
blephenot
ypesoft
hei
roff
spr
ing. (
03marks)
c)Bl
oodgroupsi
nhumansshowdiscont
inuousv
ari
ati
on.Expl
ainwhaty
ouunder
stand
byt
hisstat
ement
. (
02mar ks)
Assignmentt wo:
a)i)Gi v
eanyf ourdif
ferencesbetweenmitosisandmei osi
s.(
4mar ks)
i
i)Givethepar tswher emeiosisoccur
sinplantsandanimalsrespect
ively
.(2marks)
b)Whati sther el
evanceofmei osis?(2marks)
c)Whenawhi tehair
edmal efoxwasmat edwi t
habl ackhai
redfemalef ox,bot
hpure
breeding,al
l of
fspringswer egrey.
i
) Explainwhyt heoffspri
ngsweregreyincolour?(1mark)
i
i)Usi nggenet icdiagrams,show how t heF1of fspri
ngswer eproduced;andF2
Ar
thurKugonzaH
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 Genet
ics

of
fspr
ingsi
ftwooft
heF1f
oxeswer
eal
l
owedt
oint
erbr
eed.(
6mar
ks)

Appl
i
cationofgenet ics
i
) Thest udyofgenet i
csencouragesbreedi ngofani mal
swi thgoodcharacter
ist
icst o
i
mpr ovelivestock.
i
i
)Ithelpst oeliminateorreduceharmful character
isti
csthroughthest
udyofgenet ics.
i
i
i)Throughgenet i
ccounseli
ngandadv icei ndi
vidualsmaybeadv i
sedonthepossibi l
it
y
oftheiroffsprings.
i
v)I
thelpsi npr edict
ionofoffspri
ngfrom t womat ingindiv
idualsandsol
v esproblems
l
ikefrater
nal uncertai
nty
.

MUTATI
ON
Thi
sisasudden/
spont
aneouschangei
nthestr
uct
ureandcomposi
ti
onofageneor
chr
omosome.

Typesofmutat
ion
i
) Chr
omosomemut at
ion:t
hisisasuddenchangeinthenumberorst r
uct
ureofa
chr
omosome.
i
i
)Genemut at
ion:
Thi
sisasuddenchangei
nthechemi
calnat
ureofagene.

Typesofchromosomemut ati
on
i
) Del et
ion: i
ii
)Dupl icati
on:
Thisiswhenapi eceofchromosomei s A chr omosome gai ns a pi
ece from
broken of f and lost therefore t
he anotherchr omosomeoft hesamet ype
chromosomebecomesshor t
ert hant
he andbecomesl onger.
ori
ginalone. A
A B
B C
C
i
v)Tr anslocati
on:
i
i)I nver
sion: A piece ofchr omosome breaks and
Api eceoft hechromosomebr eaksand j
oins t o anot her chr
omosome of
j
oinsonadi ff
erentsideoft hesame di
fferenttype.
chromosome. A
A B
B C
C

Examplesofchromosomemutat
ioni
nman
i
) Tur
ner’
ssy ndr
ome:thei ndi
vi
dualhasoneXchromosome.Thi
sgiv
esri
setoa
st
eri
leabnormalshor
tfemaleanditi
sduetol
ossofonesexchr
omosome.

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 Genet
ics

i
i
)Down’ ssy ndrome( mongoli
sm):t
hisisduet otheincreasei
nthenumberof
chromosomes.Thei ndivi
duali
sment al
lyr
etardedwithweakmuscles,abigor
l
argehead, abr oadchest,
stunt
edgrowthanddroppedey es.
i
i
i)Cli
nefelt
er’
ssy ndrome:thi
sisduetoanaddit
ionalXchromosomeinanindi
vi
dual
.
Thi
sr esult
sinast eri
lemalewhomaybement al
lyret
arded.

Exampl
esofgenemutat
ion
i
) Albini
sm
i
i) Si
cklecel
lanemi
a

Causesofmut at
ions.
Mutationsar ecausedbysubst ancesgenerall
yreferredtoasmut agens.Thesei
ncl
ude;
i
) Hi ght emperat ures.
i
i)Chemi calssuchasmust ardgas, col
chineandcaf fei
ne.
i
ii
)Hi gh-energypar t
icl
essuchasal phaandbet aparticl
es.
i
v)Hi gh-energyr adiati
onssuchasx- rays,
gammar ay sandult
raviol
etradi
ati
ons.
Note;mostmut ationsaredisadvantageousandr ecessive.Theyarerarebutper
sist
ent
i
nthepopul ati
on.

EVOLUTI
ON

Evolut
ionistheprocessbywhi chmorecomplexformsoforgani
smsarisefr
om simpl
er
for
msov eralongperi
odoft i
me.Or
Thisisagr adualprocessbywhi chorgani
smschangef r
om simpl
etocompl exfor
ms
overaper i
odoftime.
Buthow t hendidthef i
rstpri
miti
veorgani
smsar i
seandf r
om where?Toanswert he
questi
on, manybiol
ogistshavetr
iedt
oputupt heor
iest
oexplai
ntheori
ginofli
fe.

Theori
esoforigi
noflif
e
Theor i
ginofl ifeisnotexact l
yknown.Howev ersomet heorieshavebeenputforwar
dto
explai
nt heor igi
nofl if
e.Thesear e:
1.Speci al creationtheory:
Alll
ivi
ngt hingswer ecreatedbyGod.
2.St eadyst atet heory:
Itsuggest sthatlifehasnoor i
ginandi thasbeeninexistence.
3.Spont aneousgener at
iont heory :
Itsuggest sthatlifearosef r
om non- li
vi
ngmat t
er.
4.Cosmozoant heor y
:
Itsuggest sthatlifearosef rom anotherpl
anetoftheuniv er
seandarri
vedoneart
h
bysomemeans.
5.Bi ochemi cal evolut
iontheor y:
Itsuggest sthatinorganicmol eculesi.
e.DNAandchromosomesandot herpr
otei
n

Ar
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34
 Genet
ics

moleculeswereorganizedint
oabasi cuni tofl
i
fecall
edacell.
Iti
sthemostaccept edtheoryoftheor i
ginofli
fe.Thesimpl
elif
e( cel
l)gr
aduall
y
underwentnumerouschangesal ongdi f
ferentl
inestofor
mt hepresentdiver
sit
yof
complexorganisms.
Thisconfi
rmsthatallt
hepr esentor
gani smsdespiteofthei
rdif
ferencesarosefrom t
he
sameancestors,aprocesscalledevolution.

THEORI ESOFEVOLUTI ON
Theseexpl aint hemechani sm ofhowev oluti
onhast akenplaceov eraper i
odoft ime.
Ther ear etwot heori
esputf orwar dtoexpl ai nhowev ol
uti
ont akesplacei .e.Lamarck’s
theor y(Lamar ckism)andDar win’stheor y(Dar wi
nism)
LAMARCK’ STHEORYOFEVOLUTI ON
Thi swasputf orwar dbyabi ol
ogi stcalledLamar ck.
Itwasbasedont hef oll
owingpr inciples;
 I nfl
uenceofenv i
ronment al f
act ors.
 Useanddi suseofpar tsoft hebody .
 I nheri
tanceofacqui redchar act ers.
Lamar cksuggest edthatev oluti
onwasasar esultofchangest hator gani smsacqui red
dur i
ngt hei
rlifeti
me.Thesechangeswer et henpassedont ot heirof fspring.Itwas
bel i
evedt hatancest orsofpr esentdaygi raffeshadshor tnecksbutasf oodbecame
scar ce,theystretchedt heirnecksi nor dertogetf oli
ageleavesatt het opofshor ttr
ees.
Thi scausedt heirneckst oelongat e.Thi schar acterwaspassedont ot heiroffspri
ng.
Lamar ckputupt hel aw ofuseanddi suse.Hesuggest edt hatthedi suseofany
char acterwoul dr esultinit
sdi sappear anceandt heuseofanychar act erwoul dleadt o
i
t sdev elopment .
N. B:howev er,Lamar ck’
st heor ywaspr ov edt obewr ongbygenet icev i
dencet hat
acqui redcharact erscannotbei nher i
ted.

DARWIN’STHEORYOFEVOLUTI ON
CharlesDar wi
ni sanotherbi
ologi
stwhopr oposedatheorytoexpl
ainhow ev
olut
ion
takesplace.Darwinsuggest
edthatevol
uti
onoccursbynat
ural
sel
ecti
on.

Naturalselecti
on
Thisist hepr ocessbywhi chorganismst hatar ebetteradaptedt ot heenv i
ronment
survi
vet orepr oducewhilethoselessadapt edf ai
ltodosoandbecomeext inct
.Or
Thisisapr ocessbywhi chnat ur
eselectsf orthebestadaptedor ganismsandsel ects
againstthel essadaptedones.
When t he env i
ronmentchanges,i taffect s organi
sms and t hose,whi ch possess
characterst hatenablethem tosur vi
veinthechangi ngenvir
onmentsur vi
vewhi l
ethose
l
essadapt ed,dieov eral ongper i
odoft i
me.Thi soccur sbecauseor ganismspossess
vari
ations( dif
ferencesbetweent hem).
Thesur vivaloft hebestadapt edandr emov aloft hel
essadaptedi sknownassur vival

Ar
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35
 Genet
ics

forthef i
ttest.
Throughhi sstudies,Dar winmadet hefoll
owingobser vat
ions.
1.Or ganismspr oducev er ymanyof fspri
ngs.
2.The popul ation ofor gani sms gener all
yr emains const antdespi t
e oft he l
arge
numberofof fspringspr oduced.Thi sisduet ocompet i
tionbet weent hemember sof
thespeci esforenv i
ronment alr esourcessuchasf ood, space, shel
ter ,andmates.
3.Of fspr i
ngst endt or esembl et hei
rpar ent sinsomechar acters.Thi sisduet o
inherit
anceofchar act ersorgenesf rom parents.
4.Ther ei svariati
onamongor gani smsoft hesamepopul at
ion.Thi si sduetobot h
genet i
candenv i
ronment al factor s.
From t heabov eobser vat i
ons,Dar wi
nsuggest edt hatt heremustbeast r
uggl
ef or
existencewher ebyt hef iti ndividual s(bett
eradapt ed)sur vi
veandt heunf i
tonesdi e
(survivalforthef i
tt
est).Ov erav erylongper iodoft i
met heseor gani smscanchange
i
ntoadi ff
erentspeci es.

EVIDENCEOFEVOLUTI
ON
Thereareseveralev i
dencesputf orwar
dtosuppor
tthet
heor
yofev
olut
ion.These
i
nclude;
 Compar at
iveanatomy
 Compar at
iveembr yol
ogy
 Paleont
ology
 Taxonomy
 Compar at
ivebiochemistr
y
 Geographical
distri
buti
onoforgani
sms

1.Pal eontol
ogy
Thisisthest udyoffossil
s.Fossi
lsareremai
nsofor ganismsthatli
vedint
hepastand
werepr eserv
edi nrocks.Fossi
lstudi
esshowt hatorgani
smst hatli
vedi
nthepasthad
somer esembl ancetothepresentdayorgani
sms.Thi sshowst hatt
heyhadacommon
ancestry.Thedi ff
erencesbetweent hem showst hatev ol
uti
onhasoccurredinthe
presentdayor gani
sms.

2.Compar ati
veembr yology
.
Thestudyoft hedev elopmentofthezygoteshowst hatorganismshadacommon
ancest
or.I
nal lver
tebratesforexamplet
hezygotedevelopsat aili
ntheear
lyst
ages
anditi
ssurroundedbymembr anes(amni
onandal
lant
ois).

3.Cel lbiology.
Thest udyofcel lsshowssimil
ari
ti
esbet
weenorganisms.Forexampl eal lcel
lsof
multi
cellularorgani
smshaveanucleus,
mit
ochondr
iaandotherorganel
les.Thisshows
thattheor ganismshadacommonancest r
y.Thedif
fer
encese.g.chlor
oplastsinplant
cell
sshowst hatevol
uti
ontookpl
ace

Ar
thurKugonzaH
36
 Genet
ics

4.Compar ati
veanatomy .
When anatomicalstructuresofor ganismsarestudi
ed,theyshow si mil
ari
ti
esand
dif
fer
ences.Simil
ari
ti
esi ndicat
ethattheorgani
smshadacommonancest orwhilethe
dif
fer
encesshowt hattheyhav eevol
ved.Forexampl
eallv
ertebr
ateshaveapentadacty
l
l
imbbutt hel
imbhasbeenmodi fi
edinthedi
ffer
entv
ert
ebrat
esandi tper
for
msdi f
fer
ent
funct
ions.

Homol ogousst r
uctures:Thesear est r
ucturesfrom thecommonancest r
alor igi
nt hat
servediff
erentfuncti
onse. g.thepent adactyll
imbcomposedoff i
vedigit
sl i
kei nt he
horseforrunni
ng, monkeysf orgrasping,humanbei ngsforhandl
ingandbat sf orfl
ying.
Thistypeofev ol
utioniscaleddi
l vergentevolut
ionwhi chisthetypeofev oluti
onwher e
byorganismswi thcommonancest orshavedevelopedst r
uctur
est hatperf
or m dif
ferent
funct
ionsbecauseofchangei ntheenv ir
onmentt heyli
v ei
n.

Whenst ructuresaref urt

hercompar ed,itisobservedthatsomeoft hem dif
ferbutser
ve
thesamef uncti
ons.Suchst ructur
esar eknownasanal ogousstructures.
Thusanal ogousst ructuresarestructuresfrom diff
erentancestralor i
ginbutservethe
samef unctions.Such ev ol
ution i
scal l
ed convergentev ol
uti
on whi ch isat ypeof
evolut
ionwher ebydi ff
erentorganswi thdiffer
entancest r
aloriginsper for
mt hesame
functi
on.Thi sisbecauseoft hesimilarenv i
ronmentst heyl
iveine. g.wingsofbirdsand
wingsofi nsects.

5.Adapti
veradi
ation:
When two populations ofthe same species ar
e separ
ated geogr
aphical
ly
,the
or
gani
smsadaptt hemselvestotheenv
ironmenti
nwhi cht
heyli
ve.Thi
scausesthem t
o
di
ff
eri
nsomewayt husevol
uti
on.

6.Cl assif
icati
on.
Thecl assi
ficat
ionoforgani
smsisbasedonr
esembl
anceinor
gani
sms.Thi
sindi
cat
es
thatorganismsi nagi
vengrouphav
eacommonancestor
.

7.Compar ati
vebi
ochemist
ry.
Thest udyofchemi
calcompositi
onandfunct
ioni
ngbetweenl
i
vingor
gani
smsshows
thattheyhaveacommonancest orf
orexampleallor
gani
smshaveDNA,theyhav
e
enzymesmadeoutofprotei
n,etc.

8.Geographi
caldistr
ibut
ion:
Di
str
ibuti
onofplantsandanimalsindif
fer
entpar
tsoftheworl
dindi
cat
esev ol
uti
on.I
.e.
di
ff
erentenvi
ronmentlookdif
fer
ent.Howeversomeorgani
smsindif
fer
entgeographi
cal
l
ocati
onaresimil
armeaningthattheyhadacommonancest or
.

Ar
thurKugonzaH
37
 Genet
ics

“
Whatmenhav
edone,
mancando”

Ar
thurKugonzaH
38