VARI

ATI
ON

Defi
nit
ion:Var
iat
ionr
efer
stot
hedi
ff
erencesi
nthechar
act
eri
sti
csshownbyor
gani
smsoft
hesame
speci
es.

Organismsbel ongi
ngtothesamenaturalpopulat
ion(samespecies)woul
dbeexpect edt oexhi
bit
generalsi
milari
tyint
hei
rstr
uct
ural
,phy
siol
ogicalandbi
ochemicalchar
act
eri
sti
csbutthisisnevert
he
case;diff
erencesalwaysoccurevenini dent
icaltwi
nsandt hesearecoll
ecti
vel
yr eferr
edt oas
vari
ation.

TYPESOFVARI
ATI
ON

Ther
ear
etwot
ypes/
for
msofv
ari
ati
on,
namel
y

 Cont
inuousv
ari
ati
onandDi
scont
inuousv
ari
ati
on

CONTI
NUOUSVARI
ATI
ON

Thisi
stheoccur
renceofmi
nordif
fer
encesamongor
gani
smsoft
hesamespeci
eswi
thnocl
earcut
,
hencepr
oduci
nginter
medi
ates.

Continuouslyvaryi
ngcharacteri
sti
csaremeasur abl
eandcanbedescr ibedinnumericalfor
ms;they
can therefore be quanti
fi
ed and are descr
ibed as quanti
tat
ive charact
eri
sti
cs/
variat
[Link]
produced bya combi ned eff
ectofv erymanygenesatdi ff
[Link] ecal
led
polygenesandt hesystem ofi
nheri
tanceiscal
ledpolygeni
cinher
itance.

Exampl
esi
ncl
udehei
ght
,wei
ght
,int
ell
i
gence,
siz
eet
c.

Pol
ygeni
cinher
it
ance

Thisref
erstotheinher
it
anceofasi
ngl
echar
act
eri
sti
cpr
oducedbyacumul
ati
veef
fectofsev
eral
genesatdif
fer
entl
oci.

Mostoft heorganisms’char act

eri
sti
csareactuallyproducedbysuchgenes;i ndi
vi
duall
yeachof
thesegenesmayhav el
itt
leef f
ectonthephenot y
pebutt heircombinedeffecti
ssigni
fi
cant .These
genesalwayschangepositionsduetoreci
procalcrossi
ngover, pr
oduci
nganal mosti
nfi
nit
ev ari
etyof
phenoty
peswhi ch can greatlybemodi f
ied byenv ir
onment alfact
[Link] sfor
conti
nuousvari
ati
on.

Giventhei
rquanti
tat
ive(measur
abl
e)natur
e,theresult
sofal argepopul
ati
onrepresent
edona
fr
equencydist
ri
but
ioncur
veusual
lypr
oduceanormaldist
ri
but
ioncurv
easshownbelow.

Exampl
e

Mass/
kg 50- 52- 54- 56- 58- 60- 62- 64- 66- 68- 70-
52 54 56 58 60 62 64 66 68 70 72

Fr
equency 4 7 11 16 24 29 26 16 8 4 2

LGS|
mos.
bisaso@gmai
l
.com 1
 [Link]
esentt
hedat
aonahi
stogr
am andf
requencycur
ve

[Link]
imposet
hef
requencycur
veont
othehi
stogr
am

Thenormaldistr
ibutioncur v
eshowsacontinuousgradat
ionf
rom oneextr
emetot heotherwit
hout
[Link] ganismsshowphenotypesclosetothemedian,t
henumberreducestowardsthe
l
owerand upperext remes.E. [Link] beingsshow int
ermedi
atehei
gh with onl
yaf ew
i
ndiv
idualsbei
ngv erytallorver
yshor
t.

DI
SCONTI
NUOUSVARI
ATI
ON

Thisistheoccurr
enceofdi
ffer
encesamongor
gani
smsoft
hesamespeci
eswi
thcl
earcut
shence
produci
ngnointer
mediat
es.

Suchcharact
eri
sti
csarenon-measurabl
eandcannotbequant
if
iedandar ether
efor
edescr
ibedas
qual
it
ati
vecharact
[Link]
roll
edbyoneortwooronlyfew genesusual
lywit
htwoallel
i
c
for
msandar erel
ati
vel
yunaff
ectedbyenvir
onment
alf
act
ors.

Exampl
esi
ncludebloodgr oupsi
nman,sexinplant
sandani
mals,wi
ngl
engt
hindr
osophi
l
a,ey
e
col
ouri
ndr
osophi
la,
lightandmelani
cfor
msofpepper
edmot
hsetc.

Gi
venthei
rdisconti
nuousvari
abi
l
ity
,suchcharacter
ist
icscanonl
yber
epr
esent
edi
nfor
m ofbar
gr
aphsorevenpiechart
sbutnotf
requencycur
ves.

SOURCESOFVARI
ATI
ON

Theultimate(fundamental
)factort
hatdeterminesthephenoty
peisthegenot
[Link],t
he
subsequentdegreeofexpressi
onisgreat
lyinf
luencedbyenvi
ronment
alf
act
orsduri
nggrowthand
devel
opmentoft heorgani
sm.

ConsiderMendel
’stal
lpeaplantswhichnor
mall
ygrow toaheightof6ft,thesecanonlydosoi f
pr
ovidedwithadequateli
ght,waterandnut
ri
ent
[Link]
edsupplyinanyoft hesewouldinev
itabl
y
pr
eventatt
ainmentofful
lhei
[Link]
cesofv
ari
ati
onarether
efor
ebothenv
ironmentalandgenetic.

Env
ironment
alsour
cesofv
ari
ati
on

Thisi swhen or gani

smsoft hesamespeci esshow diff
erencesinthei
rchar acter
isti
csduet o
diff
erencesintheirenvi
[Link] hedif
fer
encesinthephenot
ypiccharacteri
sti
csareasa
resultofexposuretodiffer
entenvi
ronmentalcondi
ti
[Link]
udetemperature,l
ightint
ensi
ty,
foodsupply,watersuppl
ysocialenv
ironmentetc.

Genet
icsour
cesofv
ari
ati
on

Thisi
swhenorganismsofthesamespeci
esshowdi
ff
erencesi
nchar
act
eri
sti
csduet
odi
ff
erencesi
n
thei
rgenet
icmakeup(Const
it
uti
on)

Asexuall
yr epr
oduci
ng organi
sms tend t
o hav
et he same genet
ic composit
ion butmayshow
si
gnif
icantphenot
ypi
cdiff
erenceswhichar
easaresul
tofenvi
ronmentaldi
ff
erences.
LGS|
mos.
bisaso@gmai
l
.com 2
Forsexual
lyr
eproduci
ngor gani
sms,vastgenet
icchangesoccurateachgenerati
onduri
ngmeiosi
s
bycrossi
ngoverandindependentassor
tment,whi
leother
sresul
tfr
om random f
usionofgamet
es.

Inhisexperi
ment s,theDani shgeneti
cistJohanssendemonst r
atedthei nf
luenceofgenet i
cand
envi
ronmentalinfl
uencesont hephenotypeofor gani
[Link] iesofexper i
ment sont he
meanmassofseedsf rom agr [Link] ectedtheheaviestandl ightestseeds
ofeachgener at
ionofsel f
-pol
li
nati
ngandusedt heset oproducet henextgener ati
[Link] t
ersev eral
year
s,heobser vedthatthemeanmassofheav yseedsi ncreasedgr adual
lywhilethatofl i
ghtseeds
decr
easedpr ogressi
[Link] ff
erencebetweent het woli
neagesi ncreasedwhi lethe
massdiff
erencebet weenanyt woseedsfrom t
hesamel i
neagesdecr easedprogressivel
y .

From these r
esult
s,conti
nuous vari
ati
on can be def
ined as t
he cumulat
ive ef
fectofvary
ing
envi
ronmentalfact
orsact
ingonav ar
iabl
[Link]
salsoindi
catedthattheext
entof
expr
essionofacharact
eri
sti
cispr
imaril
ydetermi
nedbygenotype.

I
nthisexper
iment
,thepl
ant
smustbesel
fpol
l
inat
ingt
oconser
vet
heor
igi
nalgenot
ypesov
ert
he
per
iodofst
udy.

Thoughbothenvir
onment( nur
tur
e)andher
edity(nat
ure)i
nter
actt
odet
erminethefinalappear
ance
ofthe char
acter
,env i
ronmentcan neverincrease t
he ext
entofa charact
eri
sti
c beyond that
det
erminedbythegenotype.

Causesofgenet
icv
ari
ati
on

Cr
ossi
ngov
er

Thisref
erst othereciprocalexchangeoft hegeneticmat er
ialbetweennon-si
sterchr
omat i
dsatthe
chi
asmat aduringpr ophaseIofmei osi [Link]
ngov erleadst oformati
onofnew linkagegroups
cal
ledrecombi nantchromosomes( carrygenesf rom twonon- homol ogouschromosomes)whi ch
aregenetical
lydiff
erentf r
om theor [Link] ntogameteswhi chfuseto
for
m azy gotethati
sgenet ical
l
ydifferentf r
om eit
herparent.

I
ndependent
/random assor
tmentofchr
omosomes

The random al
ignmentofhomol ogous pai
rs ofchromosomes att he spi
ndl
e equat
ordur
ing
metaphaseIandsubsequentsegr
egation(
separat
ion)anaphaseIofmei
osi
s

Duringmet aphaseItheor i
entati
onofchr omosomesf rom onebi val
entist otall
yindependentofall
otherbi v
alentsanddet ermineswhi chchr omosomespassi ntothesamedaught ercel
[Link]
segregation( separ
ation)ofhomol ogouschr omosomesatanaphaseIpr oduceal argev ar
iet
yof
chromosomecombi nat i
ons,leadingt ogenet icvari
ati
oni nt hedaughtercel [Link] i
entati
onof
chromat idsatmet aphaseI Iisalsor andom anddet ermineswhi chchromat i
dspassi ntothesame
daught ercellsatanaphaseI I
.Subsequentsegr egati
on( separat
ion)producesmor echr omosomal
combi nationsintheresult
antgamet esleadingtomoregenet i
cv ar
iati
on.

LGS|
mos.
bisaso@gmai
l
.com 3
Random f
usi
onofgamet
es(
fer
ti
li
sat
ion)

Duri
ng fert
il
isat
ion,thef usi
onofmaleand femalegamet esisrandom,withanymalegamet e
pot
ential
lycapableoff usingwit
hanyofthefemalegamet [Link]
sresul
tsintoacombinat
ionof
complementaryhapl oi
d sets ofmat
ernaland pat
ernalchromosomes l
eading t
o mor
e genet
ic
var
iat
ioninthezy got
e.

Thethreesour cesofgeneti
cvari
ati
onabovesimpl
yalterthearr
angementofexist
inggenes/
all
elesin
DNAl eadi
ngt oachangei ncombinationoft
rai
tsinthenextgenerat
[Link]
edescribed
asgener eshuffl
i
ng( r
e-arr
angement)andareresponsibleforthecontinuoustypeofvari
ati
oni n
sexuall
yreproducingorgani
sms.

Thesechangeshowev erdon’ tresul

tint
onewal l
elesandtheresul
tantgenecombinat
ionscaneasil
y
beundone/ r
eversedinsubsequentgener at
ionsbeforeal
l
owi ngforsigni
fi
cantev
oluti
onar
ychange.
Theyt her
eforedon’tgener atemajorgeneticchangeswhi chmaybenecessar yforevolut
ionar
y
[Link]
ionarysignifi
cantchangesareproducedbymut ati
on;theul
timat
esourceifi
nheri
tabl
e
geneti
cchanges( vari
ations).

MUTATI
ONS

Amut ati
onisasudden/ spontaneouschangeint hestruct
ureor /andamountofDNAofanor gani
sm.
Thei nformationinmut atedDNAcanbeexpr essedphenot ypicall
ybyt ranscri
pti
oni nt
omRNAf or
tr
anslationintoapr oteinleadingtochangei nt hecharacteri
sticsofanor gani
[Link] t
icel
l
ular
organisms,themut ationsaf f
ecti
ngbodycel l
s( somaticmut at
ions)canbepassedt ocellspr
oduced
bymi tosisofthemut antcellbutnotinheri
tedtot henextgenerationandmostoft hesegounnot i
ced.
I
tisonl ymut ati
onsaffectinggamet eproduci
ngcel lsandgamet est hatcanbei nheri
tedintot
henext
generations.

Dur
ingmut ati
on,somegenet i
cmat eri
almaybel ost,doubled,i
nverted,tr
anslocat
ed( mov ed)
,and
mix
ed,r esul
ti
ng into mut
ants havi
ng dif
fer
entgenetic consti
tut
ion from the non-
mut [Link]
mutant
sf ormedtransmitt
hesemutatedgenestotheiroff
spr i
ngsthroughrandom fert
il
isat
ionwhich
makestheof f
spr
ingsbecomediffer
entfrom t
henon-mutants.

CAUSESOFMUTATI
ONS

LGS|
mos.
bisaso@gmai
l
.com 4
Mutat
ionscanhappenspont aneousl
y(randoml y
/bychance)duri
ngDNA repl
i
cati
onoraserror
s
dur
ingcelldi
visi
[Link] erbeinducedandacceler
atedbyv
ari
ousenvir
onment
alf
act
ors;
whi
char ecal
[Link] ageni
cfact
ori
nclude:

 Chemi
cal
sli
kecol
chi
cines,
for
mal
dehy
deandsomef
oodpr
eser
vat
ives

 Hi
ghener
gypar
ti
clesl
i
keal
phaandbeat
erpar
ti
cles

 Hi
ghener
gyr
adi
ati
onsl
i
keX-
ray
s,gammar
adi
ati
ons,
ult
rav
iol
etandcosmi
cradi
ati
ons

 Vi
ral
inf
ect
ionsl
i
kehapes

 Somepest
ici
del
i
keDDT

 Must
ardgas

CHARACTERI
STI
CSOFMUTATI
ONS

Some feature have been f

ound t
o appl
yal
mostuni
ver
sal
l
yto al
lfor
ms ofmut
ati
ons,t
hese
char
act
eristi
cfeatur
esincl
ude;

 Mut
ati
onsar
espont
aneous;
theycanoccursuddenl
yatanyt
ime.

 Mut
ati
onsar
erecessi
ve;
themut
antal
l
elesar
erecessi
vet
othenor
mal
for
msoft
hegenes

 Theyar eusuall
ydisadvant
ageous;mostmutati
onsinter
fer
ewi thnor malbodyfunct
ionhence
exert
ingnegati
veeffect
sontotheorgani
[Link] ati
onsar elethalandleadt
odeathofthe
[Link] ati
onscanbeadvant
ageousthoughlessfrequentl
y.

 Theyar
epermanent
/persi
stent
.Amut
ati
ononceoccur
redmayst
ayi
nthepopul
ati
onf
orv
ery
manygener
ati
onswi
thoutchange.

 Mutat
ions ar
er [Link]
ments suggestt hatan aver
age ofaboutone base-pai
rchanges
6
spont
aneouslyper10 base-pai
rrepli
cati
[Link]
nsare,onav age,encodedbyabout103
er
base-
pair
sthenitwouldt 06cel
akeaboutl lgenerat
ionsbef
orethepr
otei
ncontainedamutat
ion

TYPESOFMUTATI
ONS

 Genemut
ati
ons

 Chr
omosomemut
ati
ons

GENEMUTATI
ONS(
Poi
ntmut
ati
ons)

Thisrefer
stochangeinthebasesequenceoftheDNAport
ionequi
val
enttoonegene( ci
str
on)
.Such
mutationsoccuratasingl
elocusofthechromosomeandcausenostruct
uralchangeonDNA;they
aretheref
oreref
err
edtoaspointmutati
ons.

Ty
pesofgene/
poi
ntmut
ati
ons

LGS|
mos.
bisaso@gmai
l
.com 5
 Del
eti
on;
thi
siswher
eanucl
eot
idei
scompl
etel
ylostf
rom DNA

 Subst
it
uti
on;
ther
epl
acementofonenucl
eot
idewi
thadi
ff
erentone

 I
nser
ti
on(
addi
ti
on)
;theaddi
ti
onofonenucl
eot
idei
ntot
heDNAst
rand

 Dupl
i
cat
ion;
thi
siswher
eanucl
eot
idei
srepeat
edi
naci
str
on

 I
nver
sion;
ther
ever
sal
oft
woormor
enucl
eot
ideswi
thi
naci
str
on

Chr
omosomemut
ati
ons(
chr
omosomeabber
ati
ons)

Thesei
nvol
vechangei
nnumberorst
ruct
ureofchr
omosomes

St
ruct
uralchr
omosomalmut
ati
ons

 Deleti
on;thisinvol
vestotall
ossofapor t
ion(
s)from [Link] ati
onwi lll
eadt o
l
ossofsev eralgenesandshor teni
[Link]
estfor m ofchr omosomal
mut at
ionthatmakest hechr omosomesshor [Link] ati
onaf fect
soneof
thehomol ogouschr omosomes,t heall
elesontheotherchromosomewi l
lbeexpr essedev enif
recessiv
[Link] hesamel ocusofbothhomologouschromosomesisaffected,suchmut ations
areusual l
ylethalast heorganism cannol ongersynt
hesisesomeproteinst hatmaybev ar
y
paramountf orsurvi
val
.

 Subst
it
uti
on;
inv
olv
esr
epl
acementofchr
omosomepor
ti
onswi
thdi
ff
erentones

 I
nserti
on;theaddit
ionofport
ionsint
othechromosomalst
randThoughthi
sdoesnotchanget
he
genotype,t
[Link]
simpl
i
esthatt
he
orderofgeneloci
isimport
ant;aphenomenonknownastheposi
ti
oneffect
.

 Dupl
i
cat
ion;
iswher
ethegenesequenceofachr
omosomal
por
ti
oni
srepeat
ed

 I
nversi
on;apor
ti
onofachr
omosomebr
eaksandj
oinst
hesamechr
omosomeaf
terr
otat
ion
0
t
hrough180

 Transl
ocat
ion;a chr
omosomalporti
on br
eaks and j
oins ei
thert
he ot
herend oft
he same
chromosomeoranothernonhomol
ogouschr
omosome.

NB;Cr ossi
ng ov
erinv ol
ves r
eciprocalexchange ofthe geneti
c mat
eri
albet
ween homologous
chr
[Link] ssimplychangest heall
elesequenceofchromosomesbutnogenelociar
elost
;
si
milar
lydoesi
nversi
onandt r
anslocation

LGS|
mos.
bisaso@gmai
l
.com 6
Changei
nnumberofchr
omosomes

Theseusual
lyoccurasar esul
tofer
rorsduri
ngmeiosi
sandmayinvol
vechangei
nnumberof
complet
esetsorsimpl ynumberofchromosomes;t
hetwocasesar
et er
medaspolypl
oidyand
aneupl
oidyr
espect
ivel
y

ANEUPLOI
DY

Thi
siswhenacel l/or
ganism hasoneormor echromosomesmor eorl
essthanthenor
maldipl
oid
[Link]
sisasar esul
toff ai
l
ureofhomologouschr
omosomesorsisterchr
omati
dstosepar
ate
dur
inganaphaseIandIIofmeiosisr
espect
ivel
y(Nondi
sjunct
ion)
.

Nondisj
unct
ionisthefai
l
ureofoneormor epai
rsofhomol
ogouschromosomesorchr
omat
idsto
separ
ateatanaphaseofmeiosi
s,sucht
hatt
hedaught
ercel
l
sgetlessormorechr
omosomesthan
thenor
malhaploi
dnumber.

Theotherchr
omosomesnotaf
fect
edbynon-
disj
unct
ionar
eusual
l
ydi
str
ibut
ednor
mal
l
ybymei
osi
s
i
ntogametesfor
med.

Fusionofsuchgamet eswit
ht henor
malhaploi
dgametesleadstodi
ffer
entf
ormsofpol
ysomy
(possessi
onofexcesschr
omosomes)i
nthezy
gotesasdi
scussedbel
ow.

LGS|
mos.
bisaso@gmai
l
.com 7
Pol
ysomy Descr
ipt
ion/
cause Gener
alr
epr
esent
ati
on

Monosomy A gamet
e t
hat i
s l
acki
ng one 2n-
1; The chr
omosome i s
chromosome fuses wi
th a nor
mal r
epr
esent
edsi
ngl
yint
hezygot
e
haploi
dgamet
e

Tr
isomy Agamet
ewit
honeextr
achromosome 2n+1; The chromosome is
f
useswi
thanor
malhapl
oidgamet
e repr
esent
ed i
ntr
ipl
icat
einthe
zygot
e

Tet
rasomy A gamet
e wi th t wo ext r
a 2n +2;Two chromosomes each
chromosomes fuses wi
th a nor
mal represent
edintr
ipl
i
cat
e,maki
nga
haploi
dgamete totalof4copi
es

Et
c Et
c et
c

Afterf er
ti
li
zation,mitosiswi llsubsequent
lyt r
ansmittheanomal yt o al
lembr yoni
ccells.I
fthe
organism surv i
ves,itusual l
yhasasetoft r
aitscausedbyt heabnor malnumberoft hegenes
associatedwitht heextraormi [Link] gotesmissi
ngsomechr omosomeshav emuch
l
owerchancesofsur v
iving.
Nondi sj
uncti
oncanal sooccurdur ingmi t
[Link] r
ort akespl aceearlyinembryoni
c
development ,t
hent heaneupl oidconditi
oni
spassedal ongbymi tosi
st oal argenumberofcell
sand
i
sl i
kelytohav easubst anti
aleffectontheorganism.
Downsy ndromei sanexampl eoftrisomyinhumans,t hi
sandhet erosomalnondi sj
uncti
onare
di
scussedl aterinthechapt er.

POLYPOI
DY(
EUPLOI
DY)

Thi
siswhenacel
l
/or
gani
sm hasmor
ethant
wocompl
eteset
sofchr
omosomes

Exampl
esi
ncl
udet
ri
ploi
dy(
3n)
,tet
rapl
oidy(
4n)et
c

Inplants,tr
ipl
oidcell
sareformedbyfusionofadiploi
deggcel lwi
thahapl oidmalenucleusforming
atri
ploidendosper micnucleus;t
hisdegenerat
esinsomeseedsbutper sist
sast heendospermi n
endosper [Link]
aploi
dymaybear esul
tofsuccessfulDNArepl
icationbutchr
omosomesf ai
l
tosepar atenor mall
yatanaphase;t henucleusthereforedoesnotdi [Link] nduced
art
if
iciall
ybyt reat
ingcell
sinearlyprophasewithcolchici
ne;achemicalt hati
nhibi
tsspindlefi
bre
for
mat ioninli
vingcell
s.

NB:Amodi f
iedfor
m ofpolyploi
dyoccursi
nsomeani malcel
lswher
echromosomesr
epli
cat
eand
separ
atewit
hinanint
actnucleuswit
houtcel
ldi
vi
[Link]
siscal
l
edendomit
osi
sandoccur
sinli
ver
cel
ls(
4n),
sali
var
yglandsofdrosophi
la.

Polypl
oidyismorecommoninplantst
hanani
mals,i
nf actmostoftheknownangiosper
m speci
es
arepolyploi
[Link]
oweroccur
rencei
nanimalsisduet othefactthatt
heincr
easednumberof
chromosomesmakest heprocessofgameteformat
ionbymei osismorepronet oerr
orswhich
LGS|
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bisaso@gmai
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.com 8
makesmostpol
ypl
oidyani
mal
sinf
ert
il
[Link]
emi
nuspassi
ngt
hecondi
ti
ont
onextgener
ati
ons

Plant
sont heotherhandcanrepr
oducev egetat
ivel
ywi t
houtuseofgamet
[Link]
ti
oni
s
associ
atedwi
thsever
aladv
ant
ageswhi
chincludethefoll
owing

 Har
dnesst
ohar
shcondi
ti
ons  I
ncr
easedf
rui
tyi
eld

 Resi
stancet
odi
seases  I
ncr
easedf
rui
tsi
zeet
c;

 Fast
ergr
owt
h

Suchoffspr
ingsar
emuchbet t
eradapt
edtotheenvi
ronment
,thi
sisknownashy bri
[Link]
,
bett
eradaptedpolyploidsmayf ai
ltointer
breedwithdi
ploi
dorganisms,therebyforminganew
speci
esduet opossessionofext
rasetsofchromosomesbeyondthedipl
[Link]
med
asinter
specif
ichy
bridisat
ion.

I
nf actmostoft
heexi
sti
ngangi
osper
msar
epol
ypl
oidsduet
otheabov
eadv
ant
ages,f
orexampl
e
bananasar
e3nandwheati
s6n.

Ther
ear
etwot
ypesofpol
ypl
oidy
,dependi
ngont
heor
igi
noft
hechr
omosomeset
s

AUTOPOLYPLOI
DY

Thi
si swhenal
ltheextr
acompl et
esetsofchromosomesarederi
v edf r
om thesamespeci
[Link]
cel
l
s mayunder go r
epli
cat
ion wit
houtdivi
sion t
o pr
oduce 4n cells,the amountofcyt
oplasm
i
ncreasest
obal
ancewi t
hthatofthenucl
eusl
eadingtoagener
ali
ncr easeinthesi
zeofpl
antor
gans.

Colchici
neandr elatedchemi cal
sareusedi npl
antbreedi
ngtoinduceautopol
ypl
oidy;asintobacco
andtomat [Link]
erti
leasdiploi
dsift
heyhaveanevennumberofchr omosomes
toallow forcompl etepair
ingofhomologouschr omosomesduringmeiosis.I
nfactpolypl
oidshave
fewerabnor mal
iti
esascompar edtoanueploi
ds.

ALLOPLOI
DY

Thi
sist
hepr
esenceofcompl
eteset
sofchr
omosomesf
rom di
ff
erentspeci
es.

Suchorganismsareusuall
ysteri
leunl
essthetot
alnumberofchr
omosomesi sanexactmul
ti
pleof
theor
iginalhaploi
dnumberofchr omosomes.E.g.2(
n1+n2)
,3(n1+n2)et
cast hi
swi l
lal
l
ow for
compl
etechr omosomalpai
ringduri
ngmeiosi
s

All
opoly
ploi
dydoesnotoccuri nanimalsbecauset
herearefewerinstancesofcrossbreedi
ng
betweenspeci
[Link]
ypl
oidydoesnotaddnewgenest
othegenepoolbutsimplypr
oducesnewgene
combinati
ons.

I
MPLI
CATI
ONSOFMUTATI
ONS

Themosti
mmedi
ateef
fectofmut
ati
oni
sgenet
icv
ari
ati
on,
whi
chl
eadsv
ari
ati
oni
nphenot
ypes.

Mut
ati
onsar
eal
mostal
way
sknownt
obedi
sadv
ant
ageousbecauseoft
hei
rhar
mfulef
fect
son
LGS|
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bisaso@gmai
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.com 9
mut ants,someofwhi chareev enlet
hal
.Alt
hought hefrequencyofaneuploi
dzy gotesmaybequi te
hi
ghi nhuman,mostoft hesechromosomalalter
ationsaresodi sast
roustodev elopmentthatthe
embr yosarespontaneouslyabort
edlongbefor
[Link] ypesofaneuploi
dyappeart oupsetthe
genetic;someindi
vidual
scansur vi
vebutcar
ryasetoft r
aits(syndr
ome)characteri
sticoft
hattypeof
chromosomal aberrat
ion

Down’
ssy
ndr
ome(
mongol
ism)

Itisacongeni
talgeneti
cdi sor
derduetoi nher
itanceoft
[Link]
tri
somi
cf or
m ofpolysomyduet onondisjunct
ionofanaut osomalchr
omosome21( al
socalled
tri
somy 21)
,ort r
anslocat
ion ofthi
s chromosome usuall
y onto chr
omosome 15 making t
his
chromosomeabnormall
ylonger.

Mongoli
sm usuall
yleadstomiscar
riagei
nmot hersandthechancesofitt
ooccuri
ncreaseswit
hage
ofthefemales;mot her
saret her
eforeadvi
sedt obeart hei
rchil
drenearl
i
erinli
[Link] of
syndr
omeresultsinindi
vi
dual
shavingthefol
l
owi ngchar
acteri
sti
cs;

 Theyar
ement
all
yret
arded

 Theyhav
eashor
tli
fespanduet
othei
rlowr
esi
stancet
oinf
ect
ions

 Fr
equentsal
i
vaf
lowf
rom t
hemout
h

 Theyhav
eashor
tst
atur
e(nat
ural
standi
nghei
ght
)

 Theyhav
esl
i
tey
edappear
ance.

HETEROSOMALNON-
DISFUNCTI
ON

Thesear enon-
disj
unct
[Link] esul
tsomegamet
eshaveanext r
asex
chromosomeornosexchr [Link]
onofsuchagametewit
hanormalhapl
oidgamet
e
producesthef
oll
owingf
ormsofaneupl
oidy
.

Heterosomalnondisjunct
ionst endtohav el
essprofoundeffect
[Link] sis
becausetheYchromosomescar ryver
yfewgenesandtheextraXchromosomesinallsomaticcell
s
areinacti
vat
edintoBarrbodies-whosegenesar
enott r
anscri
[Link]
actforanormalsomat i
ccell,
onlyoneXchr omosomer emai nsacti
veandtheotheriscondensedont
oav erysmallinact
iverod
cal
ledtheBarrbody.

Kl
i
nef
elt
er’
ssy
ndr
ome(
XXY)

Thisoccur
swhenanov um wi
tht
woxchr omosomesfuseswit
hanormalhapl
oidsper
m orwhena
sperm wi
thtwosexchr
omosomesfuseswit
hanormal
haploi
dovum.

Theindi
vi
dual
saremalewithpoor
lydevelopedsecondar
ychar
act
eri
sti
csbutt
endt
oexhi
bita
numberoff
emini
net
rai
tswhi
chi
ncl
udethefoll
owing;

 Poor
lydev
elopedt
est
eswi
thv
erysmal
lpeni
ses
LGS|
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bisaso@gmai
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.com 10
  Theyhav
espar
sepubi
chai
randl
i
ttl
efaci
alhai
r

 Hi
ghpi
tchedv
oices

 Somebr
eastdev
elopmentoccur
sandwi
dehi
ps

 Theyar
einf
ert
il
eduet
oimpai
redsper
mat
ogenesi
s

 Theyhav
ever
ysubnor
mal
int
ell
i
gence

 Theyt
endt
obet
all
ert
hant
heav
eragehei
ght

Tr
ipl
eXsy
ndr
ome(
XXX)

Alsocal
l
edtr
isomyXandresul
tsf
rom f
usi
onofanor
malhapl
oidsper
m car
ryi
nganXchr
omosome
fusi
ngwit
hanovum wi
tht
woXchromosomes.

I
toccursi
nfemal
eswhoarefer
ti
le,ment
all
yandphy
sical
l
ynor
malast
hedi
ploi
dfemal
esonl
ythat
t
heytendt
ohaveahi
ghsexl
ibi
do.

XYYsy
ndr
ome

Theyar
emalesproducedwhent heYchromosomesf ai
ltosepar at
eaft
errepl
icat
ionleadi
ngto
sper
mswitht
woYchr [Link]
ndi
vi
dualsdon’texhi
bitanywel
ldev
elopedsyndromebut
mayhavet
hefol
l
owingchar
acter
ist
ics;

 Theyar
eusual
l
yver
yaggr
essi
veandt
her
efor
ecommoni
npr
isonsandsecur
it
yfor
ces

 Theyt
endt
obegi
ant
sandt
all
ert
hanabnor
mal
hei
ght
s

 Theyar
efer
ti
leandment
all
ynor
mal

Tur
ner
’ssy
ndr
ome(
XO)

I
tisaf orm ofmonosomyresul
ti
ngf
rom f
usi
onofanormalsper
m car
ryi
nganXchr
omosomewit
han
ovum lacki
ngasexchr omosome.I
tist
heonlyvi
abl
eform ofmonosomyknownt
ooccuri
nhuman
beingsandisalsocal
ledmonosomyX.

Thei
ndi
vi
dual
sar
efemal
eswhol
ackmostoft
hesecondar
yfemal
echar
act
eri
sti
csasf
oll
ows

 Theyhav
epoor
lydev
elopedgonadsandar
einf
ert
il
e

 Donotshowsecondar
ysexchar
act
eri
sti
csl
i
keenl
argedbr
eastandmenst
rual
cycl
es

 Theyar
eshor
tert
hannor
mal
hei
ght

 Theyal
sohav
easki
nfol
dar
oundt
hei
rneck

THEEEEEEEEENNNNNNNNNNNNDDDDDDDDD

LGS|
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bisaso@gmai
l
.com 11