di

ycr
aft
swi
thpi
stachi
oshel
l
s
 GENETI
CDI
SORDERS

Abnor malit
iesinani ndividual '
sgenet icmakeup
causegenet i
cdi sease.
Agenet icdiseasei sanydi seasecausedbyan
abnor malit
yint hegenet i
cmakeupofani ndiv
idual
.
Thegenet icabnor malitycanr angef rom
mi nusculetomaj orfrom adi scr et emut ationina
si
ngl ebasei ntheDNAofasi nglegenet oagr oss
chr omosomal abnor mal i
tyinv olv ingt headdi t
ionor
subt r
acti
onofanent irechr omosomeorsetof
chr omosomes.Somepeopl ei nher itgenet ic
disordersfrom thepar ents, whi l
eacqui red
changesormut ationsinapr eexi stinggeneor
groupofgenescauseot hergenet icdi seases.
Genet i
cmut ationscanoccurei therr andoml yor
duet osomeenv ironment al exposur e.
Geneticdi
sorderscanbecausedbyamut ati
onin
onegene( monogenicdisor
der),bymutati
onsin
multi
plegenes(mul t
if
actor
ial
inheri
tancedi
sorder
),
byacombi nati
onofgenemut ationsand
envir
onmentalfactor
s,orbydamaget o
chromosomes( changesinthenumberor
str
uctureofenti
rechromosomes.
 Ty
pesofGenet
icDi
sor
der
Mendel
1. i
andi
sor
der
s

Themendel i
andisor
deri satypeofgenet i
c
disorderinhumans.Thesegenet icdisor
der sare
mai nl
ycausedbyt hechangesoral t
erat
ionsi na
singlegeneorduet otheabnor malit
iesi
nt he
genome.Thesecondi tionswil
l bepresentsince
thechi l
d’sbi
rt
handcanbepr edictedbasedont he
historyofafamilywit
ht hehelpofaf amilytree.
Thispr ocessofanal
ysisiscall
edpedi gr
ee
analysis.

Thesegenet icdisor
der
sarequi
terar
eandmay
affectoneper soninev
eryt
housandsormil
li
ons.
Genet i
cdisordersmayormaynotbeinher
it
ed
mostpr evalentandcommonmendal i
andi
sorder
s
are:-

a)haemophil
ia
b)si
cklecel
lanemia
c)phenyl
ket
onuri
a
 2.CHROMOSOMALDI
SORDER

Chromosomalabnormalit
iesar
ethetypeof
geneti
cdisor
derscausedduetothechangein
manychromosomesort heabnormalarr
angement
ofthechromosomes.Therearedi
ffer
entty
pesof
chromosomal abnor
mali
ti
esasfoll
ows:

Aneupl oidy–I tisacondi t

ioni
nwhi cht her
eisa
l
ossorgai nofchr omosomesduet oabnor mal
segregat i
onofgenesdur ingcelldivisi
on.
Polyploidy–I tisacondi ti
oninwhi cht hecountof
theent ir
esetofchr omosomesi ncr easesdueto
thefailureofcy tokinesisincell
di v
ision.Itis
most l
yobser vedinpl ants.
Mostcommonchr omosomal disordersar e:
-
a)down' ssy ndrome
b)Klinefelt
er'ssy ndrome
c)turnner '
ssy ndrome

Thisdi sorderischar act

erizedbyuncontrol
l
ed
bleedingandi nabi
li
tyoft hebloodtoclotpr
operly
.
Evenasmal lcutorami norinj
urycanresul
tin
severebl eeding.Haemophi l
iaisoneamongt he
manyX- li
nkedr ecessiveinheri
tedgeneti
c
disorders,wher ethegenecausi ngthedi
sorderor
dysfunct i
onisl ocatedont heX- chr
omosome.
 HEMOPHI
LIA

Hemophi
l
iaexi
stsi
ntwof
orms:

Hemophi l
i
aA: I
tiscausedspeci
fi
cal
lybya
mut at
ioni
ntheFactorVII
IgeneontheX
chromosome.
Hemophi l
i
aB: Thi
siscausedbyamut at
ioni
nthe
FactorIXgeneontheXchr omosome.

Sy
mpt
omsofhemophi
l
ia:
-

Thesi gnsandsy mpt omsofhemophi li

av ary
basedont helevel
sofcl ott
ingfactorspresent.
Thesecl ott i
ngfactorsaresubst ancesintheblood
affectthepr ocessofbl oodcoagul ati
on.Ifthe
cl
ot t
ingf actorsareslightl
yreduced, t
hent he
bleedingi sobser v
edonl yafterthesurgeries.I
fthe
cl
ot t
ingf actorsarecompl etelyreduced,then
spont aneousbl eedingisobser v
ed.
 SI
CKLECELLANEMI
A
Thi sisat ypeofautosomal r
ecessivegenet i
c
disorder.
Accor dingtoMendel i
angenet ics,
itsinheritance
patternf ol
lowsinheri
tancefrom twocar r
ying
parent s.
Itiscausedwhent heglutamicacidi nthesi xth
positi
onoft hebeta-
globinchainofhaemogl obi
n
mol eculeisr epl
acedbyv al
ine.Themut ant
haemogl obinmoleculeundergoesaphy sical
changewhi chchangest hebiconcav eshapei nt
o
thesickl eshape.
Thisr educest heoxygen-bi
ndingcapaci tyoft he
haemogl obinmolecule.

Sy
mpt
omsofsi
ckl
ecel
lanemi
a:-

Painar eas: canbesuddeni nthechestori nthe

j
oint s
Whol ebody :di
zziness,f
ati
gue, l
owoxy geninthe
bo
dy,ormal aise
Urinary:bloodi nurineori
nabili
tytomake
concent ratedordi l
uteuri
ne
Alsocommon: abnormalbreakdownofr edblood
cells,i
nfl
amedf i
ngersortoes,pall
or,
shortnessof
breath,ory ell
owski nandey es.
 PHENYLKETONURI
A

Thisgenet icdi
sorderisautosomal recessi
vei n
nature.
I
ti sani nbor nerr
orcausedduet othedecreased
met abolism leveloftheami noacidpheny l
alanine.
I
nt hisdi sorder,t
heaf f
ectedpersondoesnothav e
theenzy met hatconvertsphenylal
aninetoty r
osine.
Asar esul t
,phenyl
alanineaccumulationtakes
placei nt hebodyandconv ert
edintomany
derivati
v eswhi chresul
tinment alr
et ar
dati
on.
sy
mpt
omsofpheny
lket
onur
ia:

-Devel
opment al:del
ayeddev el
opment ,
fai
lur
eto
thri
ve,shor
tstature,orslowgrowt h
Cogniti
ve:i
ntell
ectualdisabi
li
tyorslownessin
acti
vit
y
Alsocommon: atopiceczema, bodyodour,l
ossof
skincolour
,seizures,oruri
neodour .
 DOWN’
SSYNDROME

Downsy ndromei sacommoncongeni tal

chr
omosomal anomal ywhi chisf oundwor l
dwide.
Theconditionoccurswhent herei soneext racopy
ofchr
omosome21i ncel
lsi nthebody .Theext r
a
chr
omosome21mat eri
almayaf fectt hephysical
devel
opmentandl earni
ngabi li
ti
esofpeopl ewi t
h
Downsy ndrome.Downsy ndr omei sthemost
commongenet i
ccauseofl earningdi sabil
it
y.
Downsy ndromei snotadi seaseorani ll
nessthat
canbecur ed.PeoplewithDownsy ndromedonot
suf
ferfr
om i t
,norisitanybody ’sfault.

sy
mpt
omsofdown'
ssy
ndr
ome:
-

Facet endst ober oundandf lat

.
Earsmayal sobesmal landlow-set.
Thenosemaybesmal lwithaflatandl owbr idge.
Thebackoft hehead( cal
ledtheocci put)isslight
ly
fl
attened.
Eyessl antupwar dsandhav eanext rafoldofski n
ontheupperey eli
dknownasanepi canthicfoldor
theepi canthus.Thisskinf ol
dcov er
st heinner
corneroft heey enextt othenose.
Themout hcavityissl
ightl
ysmal l
ert hanav erage
andt het onguesl i
ghtl
ylargercausingt heperson
withDownsy ndromet osomet i
mespr otrude
his/hertongue.
 KLI
NEFELTER’
SSYNDROME

Kli
nefel
ter
’ssy
ndromeisoneoft
hegenet
icdi
sor
der
sin
males.I
toccurswhenamalebabyi
sbornwit
hmorethan
requi
redorext
raXchromosomes.

ManymalesconsistofoneXandoneYchromosomeand
anext
rachromosomecancostamal ewi
thphysi
cal
trai
ts
whi
chareinappr
opriat
eformal
es.

Kli
nefelter
’ssyndromei sf
oundin1outof1000mal es.The
unwant edadditi
onal sexchromosomei saresultofa
random errorinthefor mati
onofsperm ortheegg.
Mor ethanhalfoft het i
metheerrorhappensinthesperm
formationwhi l
ether emainderi
sduet ocompl i
cat
ionsin
theeggdev el
opment .Womenwi thpregnanciesaft
erthe
ageof35hav eslightlymorechancesofhav i
ngababywi th
thi
ssy ndrome.
 TURNER’
SSYNDROME

Int
hisdi
sor
dert
herei
st heabsenceofoneX
chr
omosomeinfemales.Hence,decr
easi
ngt
he
chr
omosomescountto45.
symptomsi
ncl
udethefoll
owing:

Suchf emal esar esterile.

Hav er udiment aryov ariesandt her eist he
absenceofsecondar ysexual char acters
Non- functioningov ariesar eanot hersy mpt om of
Turnersy ndrome.Nor mal l
yagi rl'sov ariesbegin
topr oducesexhor mones( estrogenand
progest erone)atpuber ty.Thisdoesnothappen
i
nmostgi rlswhohav eTur nersy ndrome.
Dev elopment al: abnormal i
tiesindev elopmentof
reproduct iveorgans, del ayedpuber t
y ,orshort
stature
Whol ebody :highbl oodpr essur eorost eoporosis
Hear t:congeni talhear tdef ectornar rowi ngof
theaor t
a
Mout h: abnor mal l
yraisedr oofoft hemout hor
fail
ureoft eetht odev elop.