Fix Resume Genetika Bab 4,5,6 Mutasi

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RESUME GENETIKA RESUME GENETIKA Hilda

Hilda WaWardhani rdhani S S N N (130342615346)(130342615346) Riza

Riza !iah !iah "i#ri "i#ri (130342615343)(130342615343) K$l%&'% 16

K$l%&'% 16 "" H

"" H

A I* M$ani+&$ ,$r-aian !NA. M/#a+i !an Ada'#a+i. M/#a+i !an Kan$r. A'lia+i A I* M$ani+&$ ,$r-aian !NA. M/#a+i !an Ada'#a+i. M/#a+i !an Kan$r. A'lia+i ,ra#i+ M/#a+i. S$r#a Sai# G$n$#i Man/+ia an !i#i&-/lan l$h K$+alahan R$'lia+i !NA ,ra#i+ M/#a+i. S$r#a Sai# G$n$#i Man/+ia an !i#i&-/lan l$h K$+alahan R$'lia+i !NA !an K$+alahan ,$r-aian !NA

!an K$+alahan ,$r-aian !NA 1

1 M$M$aanini+&+&$ '$$ '$r-r-aiaian an !N!NAA

S$l 'r%ari%#i &a/'/n $/ari%#i &$&ilii +i+#$& '$r-aian an -$rh/-/nan S$l 'r%ari%#i &a/'/n $/ari%#i &$&ilii +i+#$& '$r-aian an -$rh/-/nan d$nan $r/+aan !NA dan +$&/a +i+#$& #$r+$-/# &$la/an '$r-aian !NA +$ara d$nan $r/+aan !NA dan +$&/a +i+#$& #$r+$-/# &$la/an '$r-aian !NA +$ara $nzi

$nzi&a#&a#i+ i+ $-$-$ra$ra'a 'a +i++i+#$& #$& &$&&$&'$r'$r-ai-aii i $r$r/+a/+aan an !NA ai-a# !NA ai-a# &/#&/#a+i a+i i#i#/ / +$+$araara lan+/n. a#a/ &$&%#%n -aian r/+a +$hina da'a# #$r-$n#/ $lah +a#/ /n#in !NA lan+/n. a#a/ &$&%#%n -aian r/+a +$hina da'a# #$r-$n#/ $lah +a#/ /n#in !NA dan

dan $l$lah ah #$r#$r+$-+$-/# /# aan aan '/l'/lih ih d$nd$nan an '%l'%li&$i&$ri+ri+a+i a+i !NA an !NA an didia#aa#ali+ li+ %l$%l$h h $nzi$nzi&& '%l&$ra+$ a#a/ %l$h '$na&-/nan ai#/ $nzi& lia+$ !NA

'%l&$ra+$ a#a/ %l$h '$na&-/nan ai#/ $nzi& lia+$ !NA •

• ,$r-aian $r/+aan !NA ai-a# &/#a+i +$ara lan+/n,$r-aian $r/+aan !NA ai-a# &/#a+i +$ara lan+/n a

a ,$r,$r-ai-aian %lan %l$h a#$h a#iiii#a+ $#a+ $nzinzi& '%l& '%l&$r&$ra+$a+$ Enzi

Enzi& & '%l'%l&$r&$ra+$ a+$ !NA 'ada !NA 'ada -a#-a#$ri $ri //a a &$&&$&iliilii i a#a#iiii#a+#a+ $

$+%+%n/n/ll$a$a+$ +$ dadalala& & ararah ah 373785857 7 AA##iii#i#a+ a+ $$+%+%n/n/ll$a$a+$ +$ aann &$&'$r-aii $r/+aan !NA ai-a# &/#a+i 'ada -a#$ri A#ii#a+ &$&'$r-aii $r/+aan !NA ai-a# &/#a+i 'ada -a#$ri A#ii#a+ +$&aa& ini #ida di#$&/i didala& &ahl/ $/ari%#i Hal ini da'a# +$&aa& ini #ida di#$&/i didala& &ahl/ $/ari%#i Hal ini da'a# #$rliha# $la+ ia #$radi &/#a+i $n &/#a#%r 'ada E%li di&ana #$lah #$rliha# $la+ ia #$radi &/#a+i $n &/#a#%r 'ada E%li di&ana #$lah di-/#ian -ah9a &/#a+i #$r+$-/# &$n/-ah 'r%#$in an -$r#an/n di-/#ian -ah9a &/#a+i #$r+$-/# &$n/-ah 'r%#$in an -$r#an/n a9a- #$rhada' $#$'a#an r$'lia+i !NA

a9a- #$rhada' $#$'a#an r$'lia+i !NA -

- "%#%r$a#ia+i dinn$r 'iri&idin an diind/+i %l$h U*"%#%r$a#ia+i dinn$r 'iri&idin an diind/+i %l$h U*

,r%+$+ '$r-aian ini di+$-/# :%#%r$a#ia+i ar$na &$&-/#/han ,r%+$+ '$r-aian ini di+$-/# :%#%r$a#ia+i ar$na &$&-/#/han ahaa d$nan

ahaa d$nan r$n#ar$n#an n 'anan $l%&-an'anan $l%&-an  32083;032083;0n& n& (aha(ahaa a -ir/)-ir/).. d$n

d$nan an hal hal #$r#$r+$-+$-/# /# di&di&$r $r #i&#i&in in (di(di&$r &$r 'ir'iri&ii&idin) din) lanlan+/+/n n '/l'/lihih &$n

&$nadadi i -$n#-$n#/an /an +$&+$&/la/la  "%#"%#%r$%r$a#a#iaia+i +i didia#aa#ali+li+i+ i+ %l$%l$h h $nzi$nzi&& :%#%i#a+$ ('h%#%la+$)

:%#%i#a+$ ('h%#%la+$) 

 ,$r,$r-ai-aian an $r$r/+a/+aan an aiai-a# -a# alalilaila+i+i K$

K$r/r/+a+aan an !N!NA A aiai-a-a# # alaliilala+i +i dada'a# 'a# didi'/'/lilihahan n %l%l$h $h $n$nzizi&& '$r-aian

'$r-aian !NA h/+/+ !NA h/+/+ an an di+$-/# di+$-/# &$#il#ran+:$ra+$ &$#il#ran+:$ra+$ 68&$#il/anin68&$#il/anin a#a/ 68&$#h#l/anin$ &r#hl#ran+:$ra+$ Enzi& #$r+$-/# di%d$ %l$h a#a/ 68&$#h#l/anin$ &r#hl#ran+:$ra+$ Enzi& #$r+$-/# di%d$ %l$h $n an di+$-/# ada

$n an di+$-/# ada •

• ,$r-aian $r/+aan !NA d$nna ara &$&-/an 'a+anan -a+a,$r-aian $r/+aan !NA d$nna ara &$&-/an 'a+anan -a+a

,$r-aian $r/+aan !NA d$nan ara &$&-/an -a+a an#ara lain ,$r-aian $r/+aan !NA d$nan ara &$&-/an -a+a an#ara lain d$n

d$nan an '$r'$r-ai-aian an &$l&$lal/i al/i '$&'$&%#%%#%nan nan di+di+$-/# $-/# //a a d$nd$nan an '$r'$r-ai-aianan $la' a#a/ dar r$'air. ar$na #ida &$&-/#/han ahaa ,r%+$+ ini /a $la' a#a/ dar r$'air. ar$na #ida &$&-/#/han ahaa ,r%+$+ ini /a &$&'$r-aii di&$r 'iri&idin an #$r-$n#/ ai-a# ind/+i ahaa U* &$&'$r-aii di&$r 'iri&idin an #$r-$n#/ ai-a# ind/+i ahaa U* Si

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&$&'$r-aii di&$r 'iri&idin. #$#a'i /a -$r-aai di+#r%r+i lain dari h$li< !NA

2 M/#a+i dan an$r

S$-aian -$+ar a$n &/#a+i an /a#. +$'$r#i radia+i '$ni%n dan radia+i U* &a/'/n -$r-aai za# i&ia &$&ilii +i:a# ar+i%$ni Adana %r$la+i an#ara daa &/#a$n dan daa ar+i%$ni +$alan d$nan #$%ri an &$na#aan -ah9a an$r di+$-a-an &/#a+i +%&a#i Hal #$r+$-/# /a di'$r/a# d$nan adana '$n$&/an %n%$n +$l/l$r dan di'$r/a# %l$h d$&%n+#ra+i an &$n/n/an -ah9a %n%$n -$r#an/n a9a- #$rhada' ar+in%&a and/n $&ih ai-a# '$r/-ahan +a#/ 'a+an -a+a

3 A'lia+i 'ra#i+ &/#a+i

a M/#a+i an -$r&an:aa# dala& '$rai#an -i-i#

S$ali'/n &/#a+i #ida &$n/n#/nan #$#a'i /'aa &$n$&-anan +i:a# an diininan -ana dila/an &$lal/i &/#a+i an diind/+i %l$h 'ara '$rai# -i-i# Salah +a#/ %n#%h lain dari -i-i# rai#an an &$&an:aa#an &/#a+i #$rind/+i adalah -i-i# '$niilli/& an &$nha+ilan '$ni+ilin an l$-ih -ana

- T$laah 'r%+$+ -i%l%i+ &$lal/i anali+i+ &/#a+i

M/#a+i +/dah di/naan +$ara $+#$n+i: /n#/ &$n/na' al/r #$radina 'r%+$+ -i%l%i+. di&ana &$#a-%li+& #$radi &$lal/i /r/#an #aha' 'ada +/a#/ al/r

r$a+i da'a# di#$n#/an d$nan ara &$ni+%la+i dan &$&'$laari &/#a+i8&/#a+i 'ada $n '$n%d$ $nzi& an #$rli-a# M/#a+i #$r+$-/# aan &$n/rani a#ii#a+ +a#/ '%li'$'#ida. &aa &$lal/i &/#a+i %ran &$n$&/an a&a an +ana# -$rdaa/na

/n#/ '$n/na' 'r%+$+ -i%l%i+

4 Sai# $n$#i &an/+ia an di#i&-/lan %l$h $+alahan r$'lia+i !NA dan $+alahan '$r-aian !NA

S$l8+$l &an/+ia da'a# &$nida' -$-$ra'a +ai# $n$#i an #$radi +$ara ala&i an -$r+an/# 'a/# d$nan aa# 'ada r$'lia+i !NA h/+/+na $aalan '$r-aian Sai# $n$#i an di#i&-/lan ai-a# $+alahan r$'lia+i dan $+alahan '$r-aian !NA an#ra lain. =$r%d$r&a ,i&$n#%+/& (=,). A#a<ia T$lania#a (AT). An$&ia "an%ni ("A). dan Sindr%& l%%& (S)

A * M/#a+i Kr%&%+%&> ,$r/-ahan S#r/#/r Kr%&%+%&

M/#a+i r%&%+%& di+$-/# /a a-$rna+i r%&%+%& M/#a+i r%&%+%& &$na/' '$r/-ahan +#r/#/r r%&%+%& dan '$r/-ahan /&lah r%&%+%&. d$nan a#a lain &/#a+i r%&%+%& da'a# #$radi ar$na '$r/-ahan +#r/#/r r%&%+%& dan ar$na '$r/-ahan /&lah r%&%+%& M/#a+i r%&%+%& ar$na '$r/-ahan +#r/#/r &$r/'aan '$r/-ahan 'ada +/a#/ -aian r%&%+%& -/an '$r/-ahan r%&%+%& +$ara $+$l/r/han. da'a# #$radi +$ara +'%n#an &a/'/n #$radi ai-a# '$rla/an i&ia9i a#a/'/n '$rla/an radia+i !i$nal 4 &aa& &/#a+i r%&%+%& ai-a# #$radi '$r/-ahan +#r/#/r K$$&'a# #$r+$-/# adalah d$l$+i. d/'lia+i. in$r+i. dan #ran+l%a+i

1 !$l$+i

Adalah +/a#/ a-$ra+i r%&%+%& an -$r/'a '$r/-ahan +#r/#/ral an -$rai-a# hilanna +/a#/ +$&$n &a#$ri $n$#i dar/ +$+/a#/ r%&%+%& S$&$n an &$nala&i d$l$+i da'a# #$rl$#a di&ana +aa +$'anan +/a#/ r%&%+%& ?ia d$l$+i

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#$radi di //n &aa di+$-/# d$l$+i #$r&inal. /a d$l$+i #$radi -/an di//n r%&%+%& di+$-/# d$l$+i in#$ralar

S/a#/ d$l$+i -$r&/la dari '$&/#/+an r%&%+%& an diind/+i %l$h :a#%r8:a#%r '$n$-a- +$'$r#i 'ana+. radia+i (#$r/#a&a radia+i '$ni%n). ir/+ +$r#a +$na9a i&ia

a#a/ -ahan #$rda'a# $+alahan 'ada $nzi&8$nzi& r$%&-ina+i !$l$+i da'a# /a #$radi ar$na $adian 'indah +ilan #ida +$#an/'

!$l$+i -a+ana -$r+i:a# l$#al 'ada %ndi+i h%&%l% a#a/ 'ada %ndi+i+ h%&%zi%# ia d$l$+i #$radi 'ada r%&%+%& $la&in Mi+alna 'ada r%&%+%+& = aan #$#a'i ada'/la +$/&lah $il d$l$+i 'ada %ni+i h%&%zi%# an -$r+i:a# l$#al di#$&/an 'ada a/n. Drosopilla +$r#a &ahl/ hid/' lainna@ 'ada Echeria colid$l$+i an #ida $#al -ahan &$na/' hina 1 $n%& an di$nal !i alanan Drosophild$l$+i #$r-$+ar an #ida l$#al dan &$&/ninan indiid/ #$#a' hid/' hina d$9a+a +a&'$ -$r/&lah 0.1  $n%& ,ada %ndi+i h$#$r%zi%# d$l$+i +$rin &$ni&-/lan $:$ :$n%#i'

B%n#%h d$l$+i an #$lah dila'%ran adalah Drosophila dan &an/+ia !$l$+i 'ada !r%+%'hila #$r+$-/# &$nai-a#an $:$ N%#h "$n%#i' dari n%#h da'a# #$rliha# d$nan adana l$/an +aa' 'ada #$'i '%+#$r%la#$ral S$danan 'ada &an/+ia %n#%h d$l$+i an #$r$nal adalah an &$ni&-/lan +indr%&Cri-du-chat.

!$l$+i h$#$r%zi%# 'ada r%&%+%& &an/+ia +$'$r#i an lain r%&+%& 4. 13. dan 1C +$&/ana &$ni&-/lan aa# :i+i dan &$n#al an 'arah !ala& hal ini +/a#/ d$l$+i 'ada r%&%+%& 13 -$r+an/# 'a/# d$nan r$#in%-la+#%&a adalah +/a#/ #/&%r r$#ina &a#a 'ada &a+a ana8ana an aran !$l$+i '$n$-a- r$#in%-la+#%&a i#/ +$-$narna &$nhilanan $n R.Ban &$r/'aan $n '$n%d$ 'r%#$in rh an #$rdiri dari D2C a+a& a&in%

2 !/'lia+i

!/'lia+i adalah a-$ra+i r%&%+%& an #$radi ar$na $-$radaan +/a#/ +$&$n r%&%+%& an l$-ih dari +a#/ ali 'ada r%&%+%& an +a&a ?ia +$&$n an &$nala&i d/'lia+i i#/ -$r/r/#an &aa di+$-/# d/'lia+i #and$& ?ia +$-alina di+$-/# r$$r+$ #and$&. dan ia d/'lia+i #$rl$#a di //n r%&%+%& &aa di+$-/# d/'lia+i #$r&inal

$r$naan d$nan d/'lia+i +/dah di$#ah/i '/la -ah9a 'ada &ahl/ hid/' $/ari%#. -$-$ra'a $n +#r/#/ral &$&'/nai d/a a#a/ l$-ih %'i an id$n#i '$r $n%& (Aala. d. 1DC4)

Sa#/ %n#%h d/'lia+i adalah an &$ni&-/lan &a#a ar 'ada ! &$l%a+#$rindiid/ D. melogasteran -$r&a#a ar &$&ilii &a#a +$r/'a $lah ai-a# -$r/ranna :a+$# &a#a ,$9ari+an +i:a# &a#a ar ini &$&'$rliha#an iri +$&id%&inan !/'lia+ an &$ni&-/an &a#a ar #$radi a#a+ +$&$n r%&%+%& 16 A dari r%&%+%& =

3 In$r+i

In$r+i adalah '$&-alian 1C0%_{+$&$n8+$&$n r%&%+%& (Aala. d. 1DC4@} R/++$l. 1DD2@ Kl/ dan B/&&in+. 1DD4) ,ada in$r+$ ada &a#$ri $n$#i an hilan !ala& hal ini an #$radi adalah '$r/-ahan a#a/ '$na#aan $&-ali /r/#an lin$ar $n di$nai d/a &aa& in$r+$ ai#/ an '$ri+$n#ri dan 'ara+$n#ri

In$r+$ 'ara+$n#ri #ida &$nai-a#an '$r/-ahan 'anan +/a#/ l$nan r%&%+%&. +$danan in$r+$ '$ri+$n#ri da'a# &$ni&-/lan '$r/-ahan 'anan +/a#/ l$nan r%&%+%&

(4)

!a&'a In$r+i T$rhada' ,$&-$n#/an Ga&$#

!a&'a in$r+i #$rhada' '$&-$n#/an a&$# #$ran#/n $'ada a'aah &i%+i+ #$radi 'ada an h$#$r%zi%# in$r+i a#a/ 'ada indiid/ h%&%zi%# in$r+i B%n#%h indiid/ h$#$r%zi%# &i+alna an &$&'/nai /r/#an +$&$n r%&%+%& AB!E"GH A!BE"GH@ +$danan an h%&%zi% in$r+i &i+alna A!BE"GH A!BE"GH !ala& hal ini ia indiid/ an &$nala&i &$%+i i#/ &$nida' in$ra+i h%&%zi%#. &aa &i%+i+ i#/ aan -$rian+/n +$ara n%r&al. dan #ida ada '$r&a+alahan an #$rai# d$nan d/'lia+i $n a#a/ d$l$+i (R/++$l. 1DD2) S$-alina ia indiid/ an &$nala&i &$%+i+ i#/ &$nida' in$r+i h$#$r%zi%# &aa +ina'+i+ lin$ar an &%r&al i#/ #ida &/nin #$r9//d +$la&a &i%+i+ (Kl/ dan B/&&in+. 1DD4) Sina'+i+ an#ara r%&%+%&8r%&%+%& h%&%l% -ar/ aan #$r9//d ia #$r-$n#/ l$n/n(loop)an an &$nand/n +$&$n8+$&$n an &$nala&i in$r+i (Aala. d. 1DC4) F$n/n i#/ #$r+$-/#inversion loop.

Tida +$&/a $adian 'indah +ilan an -$rlan+/n 'ada l$n/n in$r+$ #$r+$-/# aan -$rai-a# &/n/lna r$%&-inan an #ida da'a# hid/' (Aala. d.1DC4 @ R/++$l. 1DD2) Salah +a#/ %n#%h '$r$/alian adalah di +aa# -$rlan+/nna 'indah +ilan anda di dala& l$n/n in$r+$ $d/a r%&%+%&

+a&a8+a&a #$rli-a# 'ada 'indah +ilan 4 Tran+l%a+i

,ada #ran+l%a+i #$radi '$r/-ahan '%+i+i +$&$n r%&%+%& &a/'/n /r/#an $n an #$rand/n 'ada r%&%+%& i#/ (Aala. d. 1DC4@ R/++$l. 1DD2) Tran+l%a+i di+$-/# /a +$-aai #ran+'%+i+i Tran+l%a+i di-$daan &$nadi an in#rar%&%+%& dan in#$rr%&%+%&

,ada #ran+l%a+i in#rar%&%+%&. '$r/-ahan '%+i+i +$&$n r%&%+%& i#/ -$rlan+/n di dala& +a#/ r%&%+%&. #$r-a#a+ 'ada +/a#/ l$nan r%&%+%& a#a/ an#ar l$nan r%&%+%& Tran+l%a+i in#$rr%&%+%& di-$daan &$nadi an n%nr$+i'r% dan r$+i'r% ,ada #ran+l%a+i in#$rr%&%+%&al an n%nr$+i'r% . #$radi '$r'indahan +$&$n r%&%+%& dari +$+/a#/ r%&%+%& $ +/a#/ r%&%+%& lain an n%nh%&%l% ,ada #ran+l%a+i in#$rr%&%+%&al an r$+i'r% #$radi '$r'indahan +$&$n r%&%+%& #i&-al -ali an#ara d/a r%&%+%& an n%nh%&%l% ,ada indiid/8indiid/ '$nida' #ran+l%a+i h%&%zi%#. da&'a $n$#ia dari #ran+l%a+i adalah -$r/'a '$r/-ahan 'a/#an $n "$n%&$na +$&aa& i#/ #$radi 'ada #ran+l%a+i in#rar%&%+%& &a/'/n an in#$rr%&%+%& (an n%nr$+i'r% &a/'/n r$+i'r%)

!a&'a #ran+l%a+i #$rhada' ha+il &$i%+i+ -$rlan+/n 'ada #i'$ #ran+l%a+i an diida' ,ada -$-$ra'a a+/+. -$-$ra'a a&$# an diha+ilan /a &$nala&i d/'lia+i a#a/ d$l$+i. %l$h ar$na i#/ +$rinali #ida hid/'. +alah +a#/ '$r$/alian adalah sindrom Down familial an #$radi ai-a# d/'lia+i an di+$-a-an %l$h #ran+l%a+i !ala& hal ini dia#aan -ah9a sindrom Down familialini di+$-a-an %l$h #ran+l%a+i R%-$r#+%n ,ada #ran+l%a+i R%-$r#+%n an &$&/n/lan sindrom Down familial,l$nan 'anan r%&%+%& 21 -$ra-/n d$nan l$nan 'anan

r%&%+%& 14 a#a/ 15 (R/++$l.1DD2)

,ada +#rain  +#rain an &$nida' #ran+l%a+i r$+i'r% an h%&%zi%# &$i%+i+ -$rlan+/n n%r&al ar$na +$&/a 'a+anan r%&%+%& da'a# -$r+ina'+i+

(5)

r$+i'r% an h$#$r%zi%#. &$i%+i+ -$rlan+/n #ida n%r&al@ #$r-$n#/ %n:i/ra+i +$r/'a +ali- 'ada 'r%:a+$ I ar$na r%&%+%&8r%&%+%& h%&%l% ' $rl/ -$r'a+anan $n#/an +$r/'a +ali- #$r+$-/# #$rdiri dari 4 r%&%+%& an -$r'a+anan !ala& hal ini #ia' r%&%+%& h%&%l% +$-aian #$rhada' 2 r%&%+%& lain F$-ih lan/# #$ran#/n -aai&ana r%&%+%& &$nala&i +$r$a+i. ada 3 al/r al#$rna#i: an &$nha+ilan -$n#/an an #a&'a+$'$r#i linaran dan +$'$r#i ana C 'ada &$#a:a+$ I S$r$a+i 'ada ana:a+$ I da'a# -$rlan+/n &$lal/i 3 ara an -$r-$da. &$nha+ilan 6 #i'$ a&$# !ari $$na& #i'$ a&$# i#/. 2 dian#arana :/n+i%nal ar$na &$nand/n 'a+anan r%&%+%& an n%r&al +$danan +a#/ a&$# lainna &$nand/n 'a+anan r%&%+%& an +/dah &$nala&i #ran+l%a+i r$+i'r% K$$&'a# #i'$ a&$# lain +$rinali #ida :/n+i%nal ar$na &a+in8&a+in &$nand/n r%&%+%& an #$lah &$nala&i d/'lia+i dan d$l$+i

$r$naan d$nan a&$# an diha+ilan +$'$r#i #$r+$-/# da'a# di'$riraan -ah9a 23 a&$# #$r+$-/# #$r%l%n n%n:/n+i%nal Hal ini dida+aran 'ada a+/&+i -ah9a r%&%+%&8r%&%+%& -$r&ira+i -$r'a+anan +$ara aa &$n// $ /#/-an -$rla9anan &$n// &$i%+i+ ,ada $na#aanna a+/&+i #$r+$-/# #ida +$l/r/hna alid. #ida +$l/r/h ara +$r$a+i an &/nin -$rlan+/n 'ada :r$/$n+i an +a&a !ala& hal ini 'a+anan a&$# an #ida :/n+i%nal i#/ +$-$narna aran #$radi@ a&$#8a&$# an #ida :/n+i%nal i#/ ira8ira &$nd$a#i +$'ar/h dari a&$# an diha+ilan !ala& h/-/nan inilah indiid/8indiid/ an #$lah &$nida' #ran+l%a+i r$+i'r% an h$#$r%zi%# dia#aan -$r+i:a# +$&i+#$ril (Aala. d. 1DC4. R/++$l. 1DD2)@ +$-$narna indiid/8indiid/ '$nida' in$r+i an h$#$r%zi%# /a #$r%l%n +$&i+#$ril

!ala& 'ra#ina. a&$#8a&$# h$9an an &$&ilii +$&$n8+$&$n r%&%+%& an #$lah -$rd/'lia+i a#a/ an #$lah &$nala&i d$l$+i da'a# -$r:/n+i #$#a'i zi%# an #$r-$n#/ -ia+ana &a#i !i lain 'iha zi%# an #$r-$n#/ da'a# #$#a' hid/' dan -$r$&-an. ia +$&$n r%&%+%& an -$rd/'lia+i a#a/ an &$nala&i d$l$+i #$r%l%n $il ,ada #/&-/ha. +$r-/ +ari an &$&ilii +$&$n r%&%+%& an #$lah -$rd/'lia+i a#a/ an #$lah &$nala&i d$l$+i -ia+ana /a #ida -$r$&-an +$&'/rna@ +$r-/8+$r-/ +ari +$&aa& i#/ /a #$r%l%n n%n:/n+i%nal (Aala. d. 1DC4@ R/++$l. 1DD2)

A 6 MUTASI KRMSM ,ERUAHAN ?UMFAH KRMSM 1 "USI SENTRIK !AN "ISI SENTRIK

,$na&-/nan ("/+i) r%&%+%& dan '$&i+ahan ("i+i) r%&%+%& adan8adan di+$-/# +$-aai '$r/-ahan R%-$r#+%n "/+i r%&%+%& #$radi -ila d/a %&%+%& h%&%l% -$ra-/n &$&-$n#/ +a#/ r%&%+%& "i+i r%&%+%& #$radi ia +a#/ r%&%+%& #$r'i+ah &$nadi d/a R%-$r#+%nian han$+ di+$-/# /a +$-aai r%-$r#+%nian #ran+l%a#i%n an &$r/'aan +/a#/ #i'$ #ran+l%a+i n%nr$+i'r% an -$rai-a# -$ra-/nna l$nan8l$nan 'anan dari d/a r%&%+%& ar%+$n#ri B%n#%hna

familial down syndome ai#/ l$nan 'anan r%&%+%& 21 -$ra-/n d$nan l$nan 'anan r%&%+%& 14 ,$r$&-anan +$lan/#na. indiid/ +$&aa& i#/ aan -$r'$ran +$-aai arri$r aan &$&/n/lan $lainan familial down syndomedi +aa# a9in d$nan 'a+anan an n%r&ald%9n +ndr%& #i&-/l ai-a# #ri+%&i 21 an #$rai# d$nan aal -$r'i+ah r%&%+%& 21 di +aa# &$i%+i+ +$-$l/&na. +$danan :a&ilial d%9n +ndr%&