biomol translet

7/24/2019 biomol translet

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BODY PROTEIN, contoh :BODY PROTEIN, contoh : EnzymeEnzyme ReceptorReceptor

HormoneHormone Growth FactorGrowth Factor Immunogo!u"nImmunogo!u"n Inter#eron, Intereu$"n, %yto$"neInter#eron, Intereu$"n, %yto$"ne &'he("on( moecue(&'he("on( moecue( H)&*+H% +a-orH)&*+H% +a-or

H"(tocompat"!""ty %ompe./H"(tocompat"!""ty %ompe./


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0TR12T1R PROTEIN0TR12T1R PROTEIN

0IF&T PROTEIN0IF&T PROTEIN

F1NG0I PROTEINF1NG0I PROTEIN

PE+BENT12&N PROTEINPE+BENT12&N PROTEIN

DI0TRIB10I PROTEINDI0TRIB10I PROTEIN PE+ERI20&&N PROTEINPE+ERI20&&N PROTEIN


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0TR12T1R PROTEIN0TR12T1R PROTEIN

:: 0tru$tur0tru$tur Pr"merPr"mer: 0e3uen(" a(am am"no: 0e3uen(" a(am am"no

0tru$tur0tru$tur 0e$un'er0e$un'er:: 4he"., "patan4he"., "patan

0tru$tur0tru$turTert"erTert"er: (u!4un"t prote"n: (u!4un"t prote"n

0tru$tur0tru$tur 2waterner2waterner: $e(euruhan: $e(euruhanprote"nprote"n

ter'"r" 'ar" !e!erapa (u!4un"t/ter'"r" 'ar" !e!erapa (u!4un"t/


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Prote"n(Prote"n(are compo(e' o# (u!un"t( cae' am"noare compo(e' o# (u!un"t( cae' am"no

ac"'(ac"'(


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Organee( an' #ract"on :Organee( an' #ract"on :

Nuceu(Nuceu( %yto($eeton%yto($eeton

+"tochon'r"on+"tochon'r"on %yto(o%yto(o

En'opa(m"c ret"cuumEn'opa(m"c ret"cuum R"!o(omeR"!o(ome

)y(o(ome)y(o(ome

Pa(ma mem!ranePa(ma mem!rane

Gog" &pparatu(Gog" &pparatu(

Pero."(omePero."(ome


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Pro$aryote(Pro$aryote(

Form an' Funct"onForm an' Funct"on )"#e "()"#e "( !a(e' on morphoog"ca un"t(!a(e' on morphoog"ca un"t( $nown a( ce( 6787/$nown a( ce( 6787/ Two ma-or ca(("9cat"on( o# ce(: theTwo ma-or ca(("9cat"on( o# ce(: the Eu$aryote(Eu$aryote(an'an' Pro$aryote(Pro$aryote(

Pro$aryote( 5ar"ou( type( o# !acter"a/ ha5e reat"5ey ("mpePro$aryote( 5ar"ou( type( o# !acter"a/ ha5e reat"5ey ("mpe

(tructure( an'(tructure( an' un"ceuarun"ceuar they may #orm coon"e(/they may #orm coon"e(/

"ru(e("ru(e(, are, are not ca(("9e' a( "5"ngnot ca(("9e' a( "5"ng!ecau(e they ac$ the!ecau(e they ac$ the

meta!o"c apparatu( to repro'uce' out("'e the"r ho(t ce(meta!o"c apparatu( to repro'uce' out("'e the"r ho(t ce(

Formu"r 'an Fung("Formu"r 'an Fung("

2eh"'upan '"'a(ar$an pa'a un"t mor#oog" yang '"$ena (e!aga"2eh"'upan '"'a(ar$an pa'a un"t mor#oog" yang '"$ena (e!aga"

(e 6787/(e 6787/

Dua utama $a("9$a(" (e: Eu$ar"ota 'an Pro$ar"ota yangDua utama $a("9$a(" (e: Eu$ar"ota 'an Pro$ar"ota yangPro$ar"ota !er!aga" -en"( !a$ter"/ mem""$" (tru$tur yangPro$ar"ota !er!aga" -en"( !a$ter"/ mem""$" (tru$tur yang

reat"# (e'erhana 'an un"(euer mere$a 'apatreat"# (e'erhana 'an un"(euer mere$a 'apat

mem!entu$$oon"/mem!entu$$oon"/

"ru(, t"'a$ '"$a("9$a("$an (e!aga" h"'up $arena mere$a t"'a$"ru(, t"'a$ '"$a("9$a("$an (e!aga" h"'up $arena mere$a t"'a$

mem""$" aat meta!o"(me untu$ '"repro'u$(" uar (e tuan rumahmem""$" aat meta!o"(me untu$ '"repro'u$(" uar (e tuan rumah

mere$amere$a


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Pro$aryote(Pro$aryote( Form an' Funct"onForm an' Funct"on

Pro$aryote( are thePro$aryote( are the mo(t numerou( an' w"'e(prea' organ"(mmo(t numerou( an' w"'e(prea' organ"(mon Earthon Earth

H"ghyH"ghy a'apta!e meta!o"(ma'apta!e meta!o"(m(u"t them to an enormou( 5ar"ety o#(u"t them to an enormou( 5ar"ety o#

ha!"tat(ha!"tat(

%erta"n type( o# !acter"a may thr"5e "n or e5en%erta"n type( o# !acter"a may thr"5e "n or e5en re3u"re con'"t"on( thatre3u"re con'"t"on( that

are ho(t"e to eu$aryote(are ho(t"e to eu$aryote(chem"ca en5"ronment(, h"gh temperature an'chem"ca en5"ronment(, h"gh temperature an'

ac$ o# o.ygen/ac$ o# o.ygen/

Rap"' repro'uct"5e rateRap"' repro'uct"5e ratean' a!""ty o# many !acter"a to #orm (pore(an' a!""ty o# many !acter"a to #orm (pore(


Pro$ar"ota a'aah organ"(me yang pa"ng !anya$ 'an ua( '" Bum"Pro$ar"ota a'aah organ"(me yang pa"ng !anya$ 'an ua( '" Bum"

+u'ah !era'apta(" (e(ua" 'engan mere$a untu$meta!o"(me !er!aga"+u'ah !era'apta(" (e(ua" 'engan mere$a untu$meta!o"(me !er!aga"

5ar"a(" ha!"tat5ar"a(" ha!"tat

Be!erapa -en"( !a$ter" 'apat !er$em!ang 'aam atauBe!erapa -en"( !a$ter" 'apat !er$em!ang 'aam atau!ah$an mem!utuh$an!ah$an mem!utuh$an

$on'"(" yang memu(uh" eu$ar"ota$"m"a "ng$ungan, (uhu t"ngg"$on'"(" yang memu(uh" eu$ar"ota$"m"a "ng$ungan, (uhu t"ngg"

'an $e$urangan o$("gen/'an $e$urangan o$("gen/

T"ng$at repro'u$(" yang cepat 'an $emampuan !anya$T"ng$at repro'u$(" yang cepat 'an $emampuan !anya$

!a$ter" mem!entu$ (pora!a$ter" mem!entu$ (pora


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Pro$aryot"c cePro$aryot"c ce


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Form an' Funct"onForm an' Funct"on Pro$aryote( ha5ePro$aryote( ha5e reat"5ey ("mpe anatom"e(reat"5ey ("mpe anatom"e(cece

mem!rane, ce wa, cap(ue, cytopa(m chromo(ome,mem!rane, ce wa, cap(ue, cytopa(m chromo(ome,

RN& enzyme( an' r"!o(ome(/RN& enzyme( an' r"!o(ome(/

Pro$aryote( empoy a w"'e 5ar"ety o# meta!o"c energyPro$aryote( empoy a w"'e 5ar"ety o# meta!o"c energy

(ource( (ource( autotroph(autotroph(,, chemo"thotroph(chemo"thotroph(,, photoautotroph(photoautotroph(,,

heterotroph(heterotroph(,, o!"o!"


Pro$ar"ota mem""$" anatom" yang reat"#Pro$ar"ota mem""$" anatom" yang reat"#

(e'erhana mem!ran (e, '"n'"ng(e'erhana mem!ran (e, '"n'"ng

(e, $ap(u, $romo(om ("topa(ma, enz"m RN&(e, $ap(u, $romo(om ("topa(ma, enz"m RN&

'an r"!o(om/'an r"!o(om/

Pro$ar"ota mengguna$an !er!aga" macam (um!erPro$ar"ota mengguna$an !er!aga" macam (um!er

energ"meta!o"$ autotro#, chemo"thotroph(, photoautotroenerg"meta!o"$ autotro#, chemo"thotroph(, photoautotro

ph(,heterotro#, aero! o!"gat 'an anaero! o!"gat/gateph(,heterotro#, aero! o!"gat 'an anaero! o!"gat/gate

aero!e( an' o!"gate anaero!e(/aero!e( an' o!"gate anaero!e(/


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Pro$aryot"c ca(("9cat"onPro$aryot"c ca(("9cat"on Ta.onomy are "nap"ca!e to pro$aryote( !ecau(e the reat"5eyTa.onomy are "nap"ca!e to pro$aryote( !ecau(e the reat"5ey

("mpe (tructure( pro5"'e("mpe (tructure( pro5"'e "tte "n'"cat"on o# the"r phyogenet"c"tte "n'"cat"on o# the"r phyogenet"c

reat"on(h"p(reat"on(h"p(

Ba(e' onBa(e' on ce wa propert"e(ce wa propert"e(: 8 ma-or type(: +ycopa(ma,: 8 ma-or type(: +ycopa(ma,

Gram4po("t"5e !acter"a an' Gram4negat"5e !acter"aGram4po("t"5e !acter"a an' Gram4negat"5e !acter"a +ycopa(ma( are+ycopa(ma( are the (mae(t o# a "5"ng ce(the (mae(t o# a "5"ng ce(an' po((e((an' po((e((

? o# the DN& o# an E@co"? o# the DN& o# an E@co"

$a("9$a(" pro$ar"ota$a("9$a(" pro$ar"ota

Ta$(onom" yang "nap"ca!e untu$ pro$ar"ota $arena (tru$turTa$(onom" yang "nap"ca!e untu$ pro$ar"ota $arena (tru$turyang reat"# (e'erhana menye'"a$an (e'"$"t "n'"$a("hu!unganyang reat"# (e'erhana menye'"a$an (e'"$"t "n'"$a("hu!ungan

mere$a 9ogenet"$mere$a 9ogenet"$

Ber'a(ar$an ("#at '"n'"ng (e: 8 -en"(Ber'a(ar$an ("#at '"n'"ng (e: 8 -en"(

utama: +ycopa(ma,!a$ter" Gram4po("t"# 'an !a$ter" Gram4utama: +ycopa(ma,!a$ter" Gram4po("t"# 'an !a$ter" Gram4

negat"#negat"#

+ycopa(ma( a'aah ter$ec" 'ar" (emua (e h"'up 'an+ycopa(ma( a'aah ter$ec" 'ar" (emua (e h"'up 'anmem""$" < =>? 'ar" DN& 'ar" E@co"mem""$" < =>? 'ar" DN& 'ar" E@co"


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0ome pro$aryot"c ce(0ome pro$aryot"c ce(


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Eu$aryote(Eu$aryote(

Eu$aryot"c phyogeny an' '"Aerent"at"onEu$aryot"c phyogeny an' '"Aerent"at"on One o# the mo(t remar$a!e character"(t"c( o# eu$aryote( "( the"rOne o# the mo(t remar$a!e character"(t"c( o# eu$aryote( "( the"r

enormou( morphoog"a '"5er("tyenormou( morphoog"a '"5er("ty, on !oth the ceuar an', on !oth the ceuar an'organ"(ma e5e( an amoe!a, an oa$ tree an' a human !e"ng/organ"(ma e5e( an amoe!a, an oa$ tree an' a human !e"ng/

Ta.onometr"c (cheme(Ta.onometr"c (cheme( !a(e' on gro(( morphoogy a( we a( on!a(e' on gro(( morphoogy a( we a( onprote"n an' nuce"c ac"' (e3uence(: three $"ng'om( Fung",prote"n an' nuce"c ac"' (e3uence(: three $"ng'om( Fung",Pantae, &n"ma"a, Prot"(ta/Pantae, &n"ma"a, Prot"(ta/

&natom"ca compar"(on( among "5"ng an' #o((" organ"(m(&natom"ca compar"(on( among "5"ng an' #o((" organ"(m("n'"cate that"n'"cate that the 5ar"ou( $"ng'om( o# mut"ceuar organ"(m(the 5ar"ou( $"ng'om( o# mut"ceuar organ"(m("n'epen'enty e5o5e' #rom Prot"(ta"n'epen'enty e5o5e' #rom Prot"(ta

Eu$ar"ot"$ 9ogen" 'an '"#eren("a("Eu$ar"ot"$ 9ogen" 'an '"#eren("a("0aah (atu $ara$ter"(t"$ yang pa"ng uar !"a(a0aah (atu $ara$ter"(t"$ yang pa"ng uar !"a(a'ar" eu$ar"otaa'aah $eragaman !e(ar morphoog"a mere$a, pa'a'ar" eu$ar"otaa'aah $eragaman !e(ar morphoog"a mere$a, pa'a$e'ua t"ng$at (euer 'an organ"(me amu!a, (e!uah pohon$e'ua t"ng$at (euer 'an organ"(me amu!a, (e!uah pohone$ 'an manu("a/e$ 'an manu("a/Ta.onometr"c ($ema !er'a(ar$an mor#oog" $otor (ertaTa.onometr"c ($ema !er'a(ar$an mor#oog" $otor (ertapa'aprote"n 'an (e$uen( a(am nu$eat:pa'aprote"n 'an (e$uen( a(am nu$eat:t"ga $era-aan amur,Pantae, &n"ma"a, Prot"(ta/t"ga $era-aan amur,Pantae, &n"ma"a, Prot"(ta/&natom" per!an'"ngan antara organ"(me h"'up&natom" per!an'"ngan antara organ"(me h"'up'an #o("menun-u$$an !ahwa !er!aga" $era-aan organ"(me'an #o("menun-u$$an !ahwa !er!aga" $era-aan organ"(me

mut"(euar man'"r" !ere5ou(" 'ar" Prot"(tamut"(euar man'"r" !ere5ou(" 'ar" Prot"(ta


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Structure of cells

Plasma

Membrane

EndoplasmicRetikulum

Golgi Apparatus

Lysosome

Mitochondrion

Cytoplasm

Nucleus

membrane


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Eu$aryote(Eu$aryote(

Eu$aryote( ceuar arch"tectureEu$aryote( ceuar arch"tecture 0tructura compe."ty aow( (oph"(t"cate' reguat"on o# "5"ng0tructura compe."ty aow( (oph"(t"cate' reguat"on o# "5"ng

proce((e(proce((e(

They ha5e "nterna mem!rane4enco(e' organee(They ha5e "nterna mem!rane4enco(e' organee(

Pa(ma mem!ranePa(ma mem!rane:: "p"' !"ayer, e.terna: gycocay."p"' !"ayer, e.terna: gycocay.

Permea!""ty !arr"er, Ion channe, Receptor( etcPermea!""ty !arr"er, Ion channe, Receptor( etc

Eu$ar"ota (euar ar("te$turEu$ar"ota (euar ar("te$tur

2ompe$("ta(2ompe$("ta(

(tru$tura memung$"n$an regua(" cangg"hpro(e( h"'up(tru$tura memung$"n$an regua(" cangg"hpro(e( h"'up

+ere$a mem""$" "nterna yang ter!ung$u( mem!ran organe+ere$a mem""$" "nterna yang ter!ung$u( mem!ran organe

+em!ran pa(ma:+em!ran pa(ma:

"p"' !"ayer, e$(terna: g"$o$a"$("p"' !"ayer, e$(terna: g"$o$a"$(

Permea!""ta( penghaang, Ion (auran, Re(eptor 'Permea!""ta( penghaang, Ion (auran, Re(eptor '


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Organee( "n Eu$aryot"c ce(Organee( "n Eu$aryot"c ce(

Pa(ma mem!ranePa(ma mem!rane:: Gycocay. attache' to mem!rane prote"n( an'Gycocay. attache' to mem!rane prote"n( an'

certa"n "p"' moecue(certa"n "p"' moecue(

Po((e((e( a '"5er("ty o# chane compe.e( thatPo((e((e( a '"5er("ty o# chane compe.e( that

tran(port "on( an' moecue( an' receptor( thattran(port "on( an' moecue( an' receptor( that!"n' ("gna moecue(!"n' ("gna moecue(

+em!ran pa(ma:+em!ran pa(ma:

Gycocay. mee$at pa'a prote"n mem!ran 'anGycocay. mee$at pa'a prote"n mem!ran 'an

moe$u "p"' tertentumoe$u "p"' tertentu+em""$" $eragaman $ompe$( chane yang+em""$" $eragaman $ompe$( chane yang

mengang$ut "on'an moe$u 'an re(eptor yangmengang$ut "on'an moe$u 'an re(eptor yang

meng"$at moe$u ("nyameng"$at moe$u ("nya


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Nuceu(Nuceu(:: )am"n( prote"n/ #orm a 9!rou( networ$ that pro5"'e()am"n( prote"n/ #orm a 9!rou( networ$ that pro5"'e(

(tructura (upport(tructura (upport

%onta"n chromat"n 9!er( wh"ch "( compo(e' o# DN& an'%onta"n chromat"n 9!er( wh"ch "( compo(e' o# DN& an'

h"(tone(h"(tone(

Nuceou( : the ("te o# rRN& (ynthe("(Nuceou( : the ("te o# rRN& (ynthe("(

"nt":"nt":

)am"n( prote"n/ mem!entu$)am"n( prote"n/ mem!entu$

-ar"ngan 9!ro(a yang-ar"ngan 9!ro(a yang

menye'"a$an 'u$ungan (tru$turamenye'"a$an 'u$ungan (tru$tura+engan'ung (erat $romat"n yang ter'"r"+engan'ung (erat $romat"n yang ter'"r"

'ar" DN& 'an h"(ton'ar" DN& 'an h"(ton

Nuceou(: ("tu( ("nte("( rRN&Nuceou(: ("tu( ("nte("( rRN&

O " E $ " O " E $ t"


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Organe 'aam (e eu$ar"ot"$Organe 'aam (e eu$ar"ot"$

Nuceu(Nuceu(:: Nucear en5eope "( compo(e' o# two mem!rane( that #u(e atNucear en5eope "( compo(e' o# two mem!rane( that #u(e at

nucear pore(nucear pore(

The outer nucear mem!rane "( cont"nuou( w"th the RERThe outer nucear mem!rane "( cont"nuou( w"th the RER

Nucear pore pug: RN& an' (ma prote"n( "nto an' out o# theNucear pore pug: RN& an' (ma prote"n( "nto an' out o# thenuceu(nuceu(

"nt":"nt":

&mpop nu$"r a'aah ter'"r" 'ar" 'ua&mpop nu$"r a'aah ter'"r" 'ar" 'ua

mem!ran (e$er"ng !ahwa pa'a por"4por" nu$"rmem!ran (e$er"ng !ahwa pa'a por"4por" nu$"r+em!ran nu$"r uar teru(4meneru( 'engan RER+em!ran nu$"r uar teru(4meneru( 'engan RER

Nu$"r por" pug: RN& 'an prote"n4prote"nNu$"r por" pug: RN& 'an prote"n4prote"n

$ec" ma(u$ 'an $euar 'ar" "nt"$ec" ma(u$ 'an $euar 'ar" "nt"


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En'opa(m"cEn'opa(m"cret"cuumret"cuum:: & (y(tem o# "nterconnecte' mem!ranou( tu!ue(, 5e("ce( an' arge& (y(tem o# "nterconnecte' mem!ranou( tu!ue(, 5e("ce( an' arge

Cattene' (ac(Cattene' (ac(

RER: "n5o5e' "n the (ynthe("( o# mem!rane prote"n( an' prote"n #orRER: "n5o5e' "n the (ynthe("( o# mem!rane prote"n( an' prote"n #or

e.port #rom the cee.port #rom the ce

0ER: "p"' (ynthe("( an' !"otran(#ormat"on0ER: "p"' (ynthe("( an' !"otran(#ormat"on

Ret"$uum en'opa(ma:Ret"$uum en'opa(ma:

0e!uah ("(tem mem!ran tu!uu( yang (a"ng !erhu!ungan,5e("$e0e!uah ("(tem mem!ran tu!uu( yang (a"ng !erhu!ungan,5e("$e

'an $antung p"p"h yang !e(ar'an $antung p"p"h yang !e(ar

RER: ter"!at 'aam ("nte("( prote"n mem!ran 'an prote"nuntu$RER: ter"!at 'aam ("nte("( prote"n mem!ran 'an prote"nuntu$e$(por 'ar" (ee$(por 'ar" (e

0ER: ("nte("( 'an !"otran(#orma(" "p"'0ER: ("nte("( 'an !"otran(#orma(" "p"'


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R"!o(ome(R"!o(ome(:: %ytopa(m"c r"!o(ome(: RN&*prote"n compe.e(, =>nm%ytopa(m"c r"!o(ome(: RN&*prote"n compe.e(, =>nm

Funct"on: !"o(ynthe("( o# prote"n(Funct"on: !"o(ynthe("( o# prote"n(

%onta"n"ng two "rreguargy arge an' (ma (u!un"t%onta"n"ng two "rreguargy arge an' (ma (u!un"t

wh"ch "( (eparate when not "n u(ewh"ch "( (eparate when not "n u(e

r"!o(om:r"!o(om:

0"topa(ma r"!o(om: RN& * prote"n0"topa(ma r"!o(om: RN& * prote"n

$ompe$(, =>nm$ompe$(, =>nmFung(": !"o("nte("( prote"nFung(": !"o("nte("( prote"n

+engan'ung 'ua (u!un"t "rreguargy !e(ar+engan'ung 'ua (u!un"t "rreguargy !e(ar

'an $ec" yang terp"(ah -"$a t"'a$ '"guna$an'an $ec" yang terp"(ah -"$a t"'a$ '"guna$an


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Gog"Gog"&pparatu(&pparatu(:: )arge, Cattene', (ac"$e mem!ranou( 5e("ce()arge, Cattene', (ac"$e mem!ranou( 5e("ce( & (ma mem!ranou( 5e("ce( conta"n"ng prote"n an' "p"' #u(e w"th the& (ma mem!ranou( 5e("ce( conta"n"ng prote"n an' "p"' #u(e w"th the

c"( Gog" mem!ranec"( Gog" mem!rane

The(e moecue( are tran(porte' an' proce((e' !y enzyme(The(e moecue( are tran(porte' an' proce((e' !y enzyme(

hen the pro'uct( reach the tran( #ace, they are targete' to otherhen the pro'uct( reach the tran( #ace, they are targete' to other

part( o# the cepart( o# the ce 0ecretory granue(: e.ocyto("(0ecretory granue(: e.ocyto("(

Gog" &paratur:Gog" &paratur:

Be(ar, p"p"h, mem!ran 5e("$e (ac"$eBe(ar, p"p"h, mem!ran 5e("$e (ac"$e

0e!uah mem!ran 5e("$e $ec" yang mengan'ung prote"n 'an0e!uah mem!ran 5e("$e $ec" yang mengan'ung prote"n 'an"p"' (e$er"ng 'engan mem!ran gog" c"("p"' (e$er"ng 'engan mem!ran gog" c"(

+oe$u4moe$u "n" '"ang$ut 'an '"pro(e( oeh enz"m+oe$u4moe$u "n" '"ang$ut 'an '"pro(e( oeh enz"m

2et"$a pro'u$ mencapa" wa-ah tran(, mere$a '"target$an $e !ag"an2et"$a pro'u$ mencapa" wa-ah tran(, mere$a '"target$an $e !ag"an

a"n 'ar" (ea"n 'ar" (e

0e$retor"$ !ut"ran: e$(o("to("(0e$retor"$ !ut"ran: e$(o("to("(


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)y(o(ome()y(o(ome(:: 0pher"ca (ac"$e organee(, >>nm0pher"ca (ac"$e organee(, >>nm

0"nge mem!rane conta"n granue( that are0"nge mem!rane conta"n granue( that are

aggregate( o# '"ge(t"5e enzyme( ac"' hy'roa(e/aggregate( o# '"ge(t"5e enzyme( ac"' hy'roa(e/

Tay40ach( '"(ea(e y(o(oma (torage '"(ea(e(/Tay40ach( '"(ea(e y(o(oma (torage '"(ea(e(/

"(o(om:"(o(om:

Buat (ac"$e organe, >>nmBuat (ac"$e organe, >>nm

+em!rantungga mengan'ung !ut"ran yang agrega+em!rantungga mengan'ung !ut"ran yang agregatt

enz"mpencernaan a(am h"'roa(e/enz"mpencernaan a(am h"'roa(e/

Penya$"t Tay40ach( penya$"tPenya$"t Tay40ach( penya$"t

peny"mpanan "(o(oma/peny"mpanan "(o(oma/


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Pero."(ome(Pero."(ome(:: 0ma (pher"ca mem!ranou( organee(0ma (pher"ca mem!ranou( organee(

that conta"n o."'at"5e enzyme(that conta"n o."'at"5e enzyme( In5o5e' "n !rea$'own o# to."cIn5o5e' "n !rea$'own o# to."c

moecue(: pero."'e(moecue(: pero."'e(

pero$("(om:pero$("(om:

Organe !ermem!ran $ec" !er!entu$Organe !ermem!ran $ec" !er!entu$!oa yang mengan'ung enz"m o$("'at"#!oa yang mengan'ung enz"m o$("'at"#Ter"!at 'aam pemecahanTer"!at 'aam pemecahanmoe$u !eracun: pero$("'amoe$u !eracun: pero$("'a


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+"tochon'r"a+"tochon'r"a:: %e( energy (torage moecue%e( energy (torage moecue = +em!rane(: Outer permea!e to moecue( 6>@>>> D/= +em!rane(: Outer permea!e to moecue( 6>@>>> D/

Inner "mpermea!e to "on( an' 5ar"ety organ"c moecue(/Inner "mpermea!e to "on( an' 5ar"ety organ"c moecue(/ +atr".: (e5era c"rcuar DN& an' a component( re3u"re' #or+atr".: (e5era c"rcuar DN& an' a component( re3u"re' #or

prote"n (ynthe("(prote"n (ynthe("( The num!er: 5ary w"th the ce( act"5"tyThe num!er: 5ary w"th the ce( act"5"ty

m"to$on'r"a:m"to$on'r"a:0e moe$u peny"mpanan energ"0e moe$u peny"mpanan energ"= +em!ran: )uar permea!e= +em!ran: )uar permea!e

terha'ap moe$u 6>,>>> D/!at"n $e'ap "onterha'ap moe$u 6>,>>> D/!at"n $e'ap "on'an moe$u organ"$ 5ar"eta(/'an moe$u organ"$ 5ar"eta(/+atr".: DN& ("r$uar !e!erapa 'an (emua $omponen yang+atr".: DN& ("r$uar !e!erapa 'an (emua $omponen yang'"peru$an untu$ ("nte("( prote"n'"peru$an untu$ ("nte("( prote"numah: !er5ar"a(" 'engan a$t"5"ta( (eumah: !er5ar"a(" 'engan a$t"5"ta( (e


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%yto($eeton%yto($eeton:: %omponent(: m"crotu!ue(, m"cro9ament( an' "nterme'"ate 9!er(%omponent(: m"crotu!ue(, m"cro9ament( an' "nterme'"ate 9!er( +"crotu!ue(: a.on, 'en'r"te(, m"tot"c (p"n'e, c""a an' Cagea+"crotu!ue(: a.on, 'en'r"te(, m"tot"c (p"n'e, c""a an' Cagea Funct"on(:Funct"on(:

6@ +a"ntenance o# o5era ce (hape6@ +a"ntenance o# o5era ce (hape=@ Fac""tat"on o# coherent ceuar=@ Fac""tat"on o# coherent ceuar mo5ement mo5ement

8@ Pro5"("on o# a (upport"ng (tructure that8@ Pro5"("on o# a (upport"ng (tructure that

gu"'e( the mo5ement( o# organee(gu"'e( the mo5ement( o# organee( w"th"n the ce@w"th"n the ce@

("to($eeton:("to($eeton:2omponen: m"$rotu!uu(, m"$ro9amen 'an2omponen: m"$rotu!uu(, m"$ro9amen 'an(erat "nterme'"ate(erat "nterme'"ate+"$rotu!uu(: a$(on, 'en'r"t, m"to("( (p"n'e, (""a+"$rotu!uu(: a$(on, 'en'r"t, m"to("( (p"n'e, (""a'an Cagea'an Cagea#ung(":#ung(":6@ Peme"haraan !entu$ (e $e(euruhan6@ Peme"haraan !entu$ (e $e(euruhan=@ Fa(""ta(" gera$an (euar $oheren=@ Fa(""ta(" gera$an (euar $oheren8@ Penye'"aan (tru$tur pen'u$ung yang8@ Penye'"aan (tru$tur pen'u$ung yangpan'uan gera$an organe 'aam (e@pan'uan gera$an organe 'aam (e@


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B"o$"m"a : DN& a'aah Poymer 'ar"B"o$"m"a : DN& a'aah Poymer 'ar"

De(o.yr"!onuceot"'eDe(o.yr"!onuceot"'eBa(a, zat GuaBa(a, zat Gua

'an 6 atau e!"h gugu( Pho(phat/'an 6 atau e!"h gugu( Pho(phat/ at Gua :at Gua : 4D4=4D4= De(o.yr"!o(eDe(o.yr"!o(eR"!o(eR"!o(e//

I$atan N4Gy$o("'a antaraI$atan N4Gy$o("'a antara

De(o.yr"!o(e %6/ 'enganDe(o.yr"!o(e %6/ 'engan Pyr"m"'"nPyr"m"'"nN6/ atauN6/ atau Pur"nPur"nNJ/NJ/


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0anger 'an G"!ert 6JK/ : metho'e0anger 'an G"!ert 6JK/ : metho'e(e3uen(" Ba(a Nu$eot"'a &, T, %, G/(e3uen(" Ba(a Nu$eot"'a &, T, %, G/

Nu$eot"'a :Nu$eot"'a : =,J m"yar=,J m"yarJJ> mm/ '"JJ> mm/ '"

%hromo(ome %hromo(ome "nt" (e"nt" (e//Teah (ee(a" '"(e3uen(" pa'a u"Teah (ee(a" '"(e3uen(" pa'a u"

=>>>=>>>

GenGen: 0epotong DN& t'':: 0epotong DN& t'': Intron 'anIntron 'anE.onE.on/@/@ & 4 T& 4 T G 4 %G 4 % 0atuan DN& :0atuan DN& : !p!p!a(e pa"r!a(e pa"r//

D "! "D "! "


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De(o.y r"!onuce"cDe(o.y r"!onuce"c

ac"'ac"'


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39/141

TahunTahun >4an>4an: DN& 'ou!e (tran'e': DN& 'ou!e (tran'e'yang mem!entu$ He". at(on an'yang mem!entu$ He". at(on an'

%r"c$/,DN& Poymera(e 2orn!erg/%r"c$/,DN& Poymera(e 2orn!erg/

TahunTahun L>4anL>4an: DN& e.trachromo(ome: DN& e.trachromo(omePa(m"'/, #ung(" mRN&, %o'onPa(m"'/, #ung(" mRN&, %o'on

Tr"pet Nuceot"'e/Tr"pet Nuceot"'e/

TahunTahun K>4anK>4an: Re5er(e Tran(cr"pta(e,: Re5er(e Tran(cr"pta(e,Re(tr"ct"on En'onucea(e, DN&Re(tr"ct"on En'onucea(e, DN&

)"ga(e, Recom!"nant DN& Berg/,)"ga(e, Recom!"nant DN& Berg/,

%on"ng DN& BIOTE2NO)OGI/%on"ng DN& BIOTE2NO)OGI/


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TahunTahun 7>4an7>4an: Tran(gen"c mou(e,: Tran(gen"c mou(e,Penerapan re$aya(a genet"$a 'aamPenerapan re$aya(a genet"$a 'aam!"'ang $e'o$teran, pertan"an 'an!"'ang $e'o$teran, pertan"an 'an

"n'u(tr"@"n'u(tr"@TahunTahun J>4anJ>4an: Gene therapy,: Gene therapy,

&mp"9$a(" 'an 0e3uenc"ng DN&&mp"9$a(" 'an 0e3uenc"ng DN&HGP/, D"agno(t"c '@HGP/, D"agno(t"c '@

TahunTahun =>>>4an=>>>4an: HGP (ee(a",: HGP (ee(a",Pathogene(e penya$"t '"$etahu" 'ar"Pathogene(e penya$"t '"$etahu" 'ar"#ung(" moe$u@#ung(" moe$u@


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The Human GenomeThe Human Genome

The haploid human genome is made up o ! " #$The haploid human genome is made up o ! " #$%%

base pairs o &NAbase pairs o &NA

This contains '$($$$) #$$($$$ genes arranged on *+ chromosomesThis contains '$($$$) #$$($$$ genes arranged on *+ chromosomes

Packaged ,ithin the nucleus o the cellPackaged ,ithin the nucleus o the cell

Hapo"' genom manu("a ter'"r" 'ar" 8 . 6>J pa(angan !a(aDN&

In" !er"(" >@>>> 4 6>>@>>> gen '"atur pa'a $romo(om ML

D"$ema( 'aam "nt" (e


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%hromo(ome(%hromo(ome(


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GenesGenes

-egments o &NA code or proteins .or-egments o &NA code or proteins .orparts o proteins/parts o proteins/

Each coding segment is called a geneEach coding segment is called a gene

0ne gene codes one protein .or part o/0ne gene codes one protein .or part o/

Genes contain the inormation ,hichGenes contain the inormation ,hich

makes us ,hat ,e aremakes us ,hat ,e are

0egmen $o'e DN& untu$ prote"n atau !ag"an 'ar" prote"n/ 0et"ap (egmen co'"ng '"(e!ut gen

0atu gen $o'e (atu prote"n atau !ag"an 'ar"/ Gen mengan'ung "n#orma(" yang mem!uat $"ta apa yang$"ta


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E"ons

1ntrons

Gene -tructure

Promoter

TAATAG 2stop3

TGAATG

start

E"on 4 coding se5uence

1ntron4 inter6ening se5uence .non)coding/

E$(on peng$o'ean urutanIntron urutan "nter5en("

non4co'"ng/


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A G C G A T C T G G

T C G C T A G A C C

&NA 7ase Pairing

&ouble heli" consists o 8

complimentary strands o &NA9

G 0t tGene 0tructure


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Gene 0tructureGene 0tructure E5ery three !a(e( o# DN& "( cae' a co'onE5ery three !a(e( o# DN& "( cae' a co'on

Each co'on (pec"9e( an am"no ac"' wh"ch -o"n together to #orm theEach co'on (pec"9e( an am"no ac"' wh"ch -o"n together to #orm theprote"nprote"n

eg &TG meth"on"ne 0T&RTeg &TG meth"on"ne 0T&RT

T&& 0TOPT&& 0TOP

T&G 0TOPT&G 0TOP

TG& 0TOPTG& 0TOP

0et"ap t"ga !a("( DN& '"(e!ut $o'on0et"ap t"ga !a("( DN& '"(e!ut $o'on

0et"ap $o'on menentu$an a(am am"no yang !erga!ung!er(ama0et"ap $o'on menentu$an a(am am"no yang !erga!ung!er(ama

untu$ mem!entu$ prote"nuntu$ mem!entu$ prote"n

m"(anya &TG met"on"n +E+1)&Im"(anya &TG met"on"n +E+1)&I

T&& BERHENTI T&& BERHENTI T&G BERHENTI T&G BERHENTI

TG& BERHENTI TG& BERHENTI


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DN& Rep"cat"onDN& Rep"cat"on

Each o# the = DN& (tran'( "( cop"e' !y mach"neryEach o# the = DN& (tran'( "( cop"e' !y mach"nery"n the ce"n the ce

Each new 'aughter (tran' ha( a (e3uenceEach new 'aughter (tran' ha( a (e3uence

comp"mentary to the or"g"na tempate (tran'comp"mentary to the or"g"na tempate (tran'

Rep"cat"on e((ent"a to aow ce '"5"("onRep"cat"on e((ent"a to aow ce '"5"("on+"to("(/ where 6 ce !ecome( =+"to("(/ where 6 ce !ecome( =

+a("ng4ma("ng 'ar" = unta" DN& '"(a"n+a("ng4ma("ng 'ar" = unta" DN& '"(a"n

oeh me("n '" 'aam (eoeh me("n '" 'aam (e1nta" putr" 0et"ap yang !aru mem""$"1nta" putr" 0et"ap yang !aru mem""$"

urutan grat"( untu$ unta"tempate yang a("urutan grat"( untu$ unta"tempate yang a("

Pent"ng untu$ memung$"n$an pem!eahanPent"ng untu$ memung$"n$an pem!eahan

(e +"to("(/ '"mana 6 (e men-a'" = Rep"$a("(e +"to("(/ '"mana 6 (e men-a'" = Rep"$a("


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A T

C

TA

G&NA

un:ips

A

TC

TA

G

T A

G

A T

CNe, strands

ormed

&NA Replication

semi)conser6ati6e

8 daughter cells


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Rep"$a(" DN& !erang(ung pa'a $e'ua he".Rep"$a(" DN& !erang(ung pa'a $e'ua he".

'engan arah yang !erawanan'engan arah yang !erawanan

DN&


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DN&Rep"cat"onRep"cat"on

Rep"cat"on #or$ :Rep"cat"on #or$ : ea'"ng (tran'ea'"ng (tran' an'an' agg"ng (tran'agg"ng (tran'

DN& (ynthe("ze' "n the Q 8DN& (ynthe("ze' "n the Q 8

The 48 (ynthe("( o# the ea'"ng (tran' "( cont"nuou(@The 48 (ynthe("( o# the ea'"ng (tran' "( cont"nuou(@

The agg"ng (tran' "( a(o (ynthe("ze' "n the 48 '"rect"on !ut "n (ma (egment(The agg"ng (tran' "( a(o (ynthe("ze' "n the 48 '"rect"on !ut "n (ma (egment(

Th"( (egment( re#erre' to a(Th"( (egment( re#erre' to a( O$aza$" #ragment(O$aza$" #ragment(

O$aza$" #ragment( ha(O$aza$" #ragment( ha( 6>> Q =>> nuceot"'e(6>> Q =>> nuceot"'e(

DN& "ga(eDN& "ga(e-o"ne' the O$aza$" #ragment(@-o"ne' the O$aza$" #ragment(@

DN& Poymera(e : DN& Poymera(e : ,, SS,, ,, UUan'an' VV

Rep"$a(" garpu: unta" unta" agg"ng ter$emu$a 'anRep"$a(" garpu: unta" unta" agg"ng ter$emu$a 'an

DN& '"("nte("( 'aam 4 8DN& '"("nte("( 'aam 4 8

0"nte("( 48 'ar" unta" ter$emu$a $ont"nu@0"nte("( 48 'ar" unta" ter$emu$a $ont"nu@

1nta" tert"ngga -uga '"("nte("( 'aam arah 48 tetap"1nta" tert"ngga -uga '"("nte("( 'aam arah 48 tetap"

'aam(egmen $ec"'aam(egmen $ec"0egmen "n" '"(e!ut (e!aga" #ragmen O$aza$"0egmen "n" '"(e!ut (e!aga" #ragmen O$aza$"

Fragmen O$aza$" mem""$" 6>> 4 =>> nu$eot"'aFragmen O$aza$" mem""$" 6>> 4 =>> nu$eot"'a

DN& "ga(e !erga!ung #ragmen O$aza$"@DN& "ga(e !erga!ung #ragmen O$aza$"@

DN& Po"mera(e :DN& Po"mera(e : , S, , U, S, , U 'an'an VV


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DN& Rep"cat"on an' %hromo(ome(DN& Rep"cat"on an' %hromo(ome(

Dur"ng the rep"cat"on o# chromo(ome(, there "(Dur"ng the rep"cat"on o# chromo(ome(, there "(

a cro((4o5er o#a cro((4o5er o#

port"on( o# one DN& (tran' to another o# the (ame chromo(ome/@port"on( o# one DN& (tran' to another o# the (ame chromo(ome/@

Th"( cro((4o5er, aong w"th ran'om"zat"on a((ure( thatTh"( cro((4o5er, aong w"th ran'om"zat"on a((ure( that oA(pr"ngoA(pr"ng

'"Aer #rom the parent(@'"Aer #rom the parent(@

0eama rep"$a(" $romo(om, a'a ("ang4e!"h 'ar" !ag"an 'ar"(atu unta" DN& yang a"n 'ar" $romo(om yang (ama/@In" cro((4o5er, !er(ama 'engan pengaca$an men-am"n$eturunanyang !er!e'a 'ar" orang tua@

+meiosis


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&NA mRNA Protein

transcription

translation

Protein -ynthesis


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DN& (en(e (tran'DN& (en(e (tran'!er#ung("!er#ung("(e!aga"(e!aga"WtempateXWtempateX'an'an

'"tran($r"p("$an men-a'"'"tran($r"p("$an men-a'"

mRN&mRN&

mRN&mRN&'"(e!ut -uga (e!aga"'"(e!ut -uga (e!aga"ant"(en(eant"(en(e'"mana'"manaThym"neThym"ne

'"gant"$an oeh'"gant"$an oeh1rac"1rac"

&NA

mRNA

A T C G G

; A G C C


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Tran(cr"pt"onTran(cr"pt"on


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Tran(cr"pt"onTran(cr"pt"on 8 Nucear RN& Poymera(e : mRN& tran(cr"!e' !y RN& Poymera(e II8 Nucear RN& Poymera(e : mRN& tran(cr"!e' !y RN& Poymera(e II TheThe "n"t"at"on o# tran(cr"pt"on"n"t"at"on o# tran(cr"pt"on"n5o5e( !"n'"ng RN& Poymera(e to a"n5o5e( !"n'"ng RN& Poymera(e to a

(pec"9c DN& (e3uence cae' a(pec"9c DN& (e3uence cae' a PromoterPromoter +any promoter( #or RN& Poymera(e II conta"n+any promoter( #or RN& Poymera(e II conta"n con(en(u( (e3uence(,con(en(u( (e3uence(,

re#erre' to a( there#erre' to a( theT&T& !o.T&T& !o. T & T & &*T & &*T &*G/ wh"ch occur a!out T & T & &*T & &*T &*G/ wh"ch occur a!out=48 !p up(tream #rom the tran(cr"pt"on "n"t"at"on ("te=48 !p up(tream #rom the tran(cr"pt"on "n"t"at"on ("te@@

The act"5"ty o# many promoter( "( aAecte' !yThe act"5"ty o# many promoter( "( aAecte' !y Enhancer(Enhancer(reguatoryreguatory(e3uence(/ that may occur thou(an'( o# !a(e pa"r((e3uence(/ that may occur thou(an'( o# !a(e pa"r( up(tream orup(tream or

'own(tream o# the gene they aAect'own(tream o# the gene they aAect@@

8 Nu$"r RN& Poymera(e: mRN& '"tran($r"p("8 Nu$"r RN& Poymera(e: mRN& '"tran($r"p("oeh RN&Poymera(e IIoeh RN&Poymera(e IIIn"("a(" tran($r"p(" me"!at$an peng"$atan RN& Poymera(eurutIn"("a(" tran($r"p(" me"!at$an peng"$atan RN& Poymera(eurutan DN& (pe("9$ yang '"(e!ut Promotoran DN& (pe("9$ yang '"(e!ut Promotor

Banya$ promotor untu$ RN& Poymera(e II mengan'ungBanya$ promotor untu$ RN& Poymera(e II mengan'ungurutan4urutan $on(en(u(, '"(e!ut (e!aga" $ota$urutan4urutan $on(en(u(, '"(e!ut (e!aga" $ota$T&T&T&T&& * T&& * T& * G/ yang ter-a'" (e$"tar =48 p! arahT&T&T&T&& * T&& * T& * G/ yang ter-a'" (e$"tar =48 p! arahhuu 'ar" ("tu( "n"("a(" tran($r"p("@huu 'ar" ("tu( "n"("a(" tran($r"p("@2eg"atan !anya$ promotor '"pengaruh" oeh Enhancer urutan2eg"atan !anya$ promotor '"pengaruh" oeh Enhancer urutanperaturan/ yang mung$"n ter-a'" r"!uan pa(anganperaturan/ yang mung$"n ter-a'" r"!uan pa(angan!a(a huuatau h""r 'ar" gen mere$a mempengaruh"@!a(a huuatau h""r 'ar" gen mere$a mempengaruh"@


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Bag"anBag"anIntronIntron '"p"(ah$an 'ar" mRN&'"p"(ah$an 'ar" mRN&0p"c"ng/0p"c"ng/

mRN& men"ngga$an "nt" (emRN& men"ngga$an "nt" (e

D" ("topa(ma, r"!o(om ter"$at pa'aD" ("topa(ma, r"!o(om ter"$at pa'amRN& untu$ mema(t"$an (an'" a(ammRN& untu$ mema(t"$an (an'" a(am

am"no yang (e(ua"am"no yang (e(ua"

mRN& "( away( rea' mRN& "( away( rea' 8 prote"n8 prote"n(ynthe("( "( N(ynthe("( "( N %%'an 'engan peran'an 'engan perantRN&tRN&yang mentran(#er a(am am"no,yang mentran(#er a(am am"no,

ter!entu$ah prote"nter!entu$ah prote"n

poypept"'a/poypept"'a/


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rRN& : M>( part"ce 67( RN& an' ? prote"n/ L>( part"cerRN& : M>( part"ce 67( RN& an' ? prote"n/ L>( part"ce

=7( ,7( ( rRN& an' prote"n/=7( ,7( ( rRN& an' prote"n/

Tran(at"ona "n"t"at"on ("gna :Tran(at"ona "n"t"at"on ("gna : &1G&1G

&m"no ac"' "n$e' tRN& :&m"no ac"' "n$e' tRN& : &m"noacy4tRN& (yntheta(e@&m"noacy4tRN& (yntheta(e@

Eongat"on :Eongat"on : Pept"'y tran(#era(e@Pept"'y tran(#era(e@

Term"nat"on : 0top %o'onTerm"nat"on : 0top %o'on1&G, 1&&, 1G&1&G, 1&&, 1G&//

rRN&: M> part"$e 67 tahun RN& 'an prote"n ?/rRN&: M> part"$e 67 tahun RN& 'an prote"n ?/

L> part"$e =70, ,7 (, ( rRN& 'an prote"n/L> part"$e =70, ,7 (, ( rRN& 'an prote"n/

In"("a(" tran(a(" ("nya: &gu(tu(In"("a(" tran(a(" ("nya: &gu(tu(&(am am"no ter$a"t tRN&: am"noa("4tRN& ("nteta(e@&(am am"no ter$a"t tRN&: am"noa("4tRN& ("nteta(e@

Eonga(": pept"'" tran(#era(e@Eonga(": pept"'" tran(#era(e@

Pemutu(an: Hent"$an 2o'onPemutu(an: Hent"$an 2o'on

1&G, 1&&, 1G&/ 1&G, 1&&, 1G&/

&m"no ac"' a((em!y 'ur"ng tran(at"on occur( on&m"no ac"' a((em!y 'ur"ng tran(at"on occur( on


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y gy g

r"!o(ome( tRN& (er5e( a( the cruc"a a'aptorr"!o(ome( tRN& (er5e( a( the cruc"a a'aptor

moecuemoecue

% #% # RN&


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%a((e( o# RN&%a((e( o# RN& +e((enger RN& 4 mRN&+e((enger RN& 4 mRN&

%opy o# the genet"c "n#ormat"on "n DN&@%opy o# the genet"c "n#ormat"on "n DN&@1(e' a( pattern to ma$e prote"n(@1(e' a( pattern to ma$e prote"n(@

Tran(#er RN& 4 tRN&Tran(#er RN& 4 tRN&

0ma RN& moecue K> 4 J> !a(e un"t(/@0ma RN& moecue K> 4 J> !a(e un"t(/@

1(e' to !r"ng the correct am"no ac"' to the ("te o# prote"n (ynthe("(@1(e' to !r"ng the correct am"no ac"' to the ("te o# prote"n (ynthe("(@

R"!o(oma RN& 4 rRN&R"!o(oma RN& 4 rRN&Pat#orm #or prote"n (ynthe("(@ Ho'( mRN& "n pace an' hep(Pat#orm #or prote"n (ynthe("(@ Ho'( mRN& "n pace an' hep(

a((em!e prote"n(@a((em!e prote"n(@

+e((enger RN& 4 mRN&+e((enger RN& 4 mRN&

0a"nan "n#orma(" genet"$ 'aam DN&@0a"nan "n#orma(" genet"$ 'aam DN&@

D"guna$an (e!aga" poa untu$ mem!uat prote"n@D"guna$an (e!aga" poa untu$ mem!uat prote"n@

RN& tran(#er 4 tRN&RN& tran(#er 4 tRN&

+oe$u RN& $ec" K> 4 J> un"t 'a(ar/@+oe$u RN& $ec" K> 4 J> un"t 'a(ar/@

D"guna$an untu$ mem!awa a(am am"no yang !enar $e ("tu(("nte("(D"guna$an untu$ mem!awa a(am am"no yang !enar $e ("tu(("nte("(

prote"n@prote"n@

R"!o(oma RN& 4 rRN&R"!o(oma RN& 4 rRN&

Pat#orm untu$ ("nte("( prote"n@ Gear mRN& '" tempat 'anPat#orm untu$ ("nte("( prote"n@ Gear mRN& '" tempat 'an

mem!antu mera$"t prote"n@mem!antu mera$"t prote"n@


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Protein


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RER

freeribosomes

cytoplasmic

proteins

ProteinTrac

N $ t"' 6Nu$eot"'a 6 N $ t"' =Nu$eot"'a = N $ t"' 8Nu$eot"'a 8


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Nu$eot"'a 6@Nu$eot"'a 6@ Nu$eot"'a =@Nu$eot"'a =@ Nu$eot"'a 8@Nu$eot"'a 8@

// 8/8/

11 %% && GG

11 PhePhe0er0er TyrTyr %y(%y( 11 11 PhePhe0er0er TyrTyr %y(%y( %%

11 )eu)eu0er0er 0TOP0TOP 0TOP0TOP &&

11 )eu)eu0er0er 0TOP0TOPTrpTrp GG

%% )eu)euProPro H"(H"( &rg&rg 11

%% )eu)euProPro H"(H"( &rg&rg %%%% )eu)euProPro GnGn &rg&rg &&

& " & "' % '&m"no &c"' %o'on(


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&m"no &c"' %o'on(&m"no &c"' %o'on(

alanine GCA, GCC, GCG

GCUarginine AGA, AGG, CGA

CGC, CGG, CGUasparagine AAC, AAU

aspartate GAC, GAU cysteine UGC, UGUglutamate GAA, GAGglutamine CAA, CAGglycine GGA, GGC, GGG

GGUhistidine CAC, CAUisoleucine AUA, AUC, AUUleucine CUA, CUC, CUG

CUU, UUA, UUG

lysine AAA, AAG

methionine AUGphenylalanine UUC, UUUproline CCA, CCC

CCG, CCU

serine UCA, UCC UCG, UCU AGC, AGU

threonine ACA, ACC ACG, ACU

tryptophan UGGtyrosine UAU, UACaline GUA, GUC

GUG, GUU


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Per!e'aan 0an'" Nu$eot"'aPer!e'aan 0an'" Nu$eot"'a

Nu$eot"'a :Nu$eot"'a : %hr@ :%hr@ : +"t@ :+"t@ :

1G&1G& 0top0top TrpTrp &1&&1& IeIe +et+et

&G&&G& &rg&rg 0top0top

&GG&GG &rg&rg 0top0top

!"# ASP"CTS $% &'T$C($N)R'A*


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!"# ASP"CTS $% &'T$C($N)R'A*'$*$G# AN) G"N"T'CS

-emi)autonomous organelles( containmultiple copies o mt&NA

&ouble membrane structure( cristaecontaining respiratory chain en:ymes

Most mitochondrial proteins encoded bynuclear genome and imported intomitochondria


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= Circular &NA ) #+('+% bp= Encodes #! polypeptides ) or 0>PH0-88 tRNA 8 rRNA= &)loop ) initiation o replication and transciption= E6ol6es at higher rate than n&NA= Maternally inherited E'aran DN& 4 6L@LJ !p

+eng$o'e$an 68 po"pept"'a 4 untu$ OZPHO0 == tRN& = rRN&D4oop 4 "n"("a(" rep"$a(" 'an tran(c"pt"onBer$em!ang pa'a t"ng$at yang e!"h t"ngg" 'ar"pa'a nDN&

materna '"war"($an

MITOCHONDRIAL ENERG META!OLI"MMITOCHONDRIAL ENERG META!OLI"MAND IN"#LIN "ECRETIONAND IN"#LIN "ECRETION


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AND IN"#LIN "ECRETIONAND IN"#LIN "ECRETION

M0&?8


68/141

Gen +"tochon'r"aGen +"tochon'r"a Gen yang !er!entu$ ("r$uer, ter'"r" 'ar"Gen yang !er!entu$ ("r$uer, ter'"r" 'ar" 6LLJ6LLJ

!p!p D"turun$an (ecaraD"turun$an (ecara materna,materna,mu'ah !ermuta("mu'ah !ermuta(" +enyan'" :+enyan'" : K (u! un"t $ompe$( IK (u! un"t $ompe$( IN&DH [4N&DH [4

Re'u$ta(e/,Re'u$ta(e/, 8 (u! un"t $ompe$( I8 (u! un"t $ompe$( I 0"to$rom0"to$rom

O$("'a(e/,O$("'a(e/, = (u! un"t &TP 0yntha(e= (u! un"t &TP 0yntha(e'an'an 6 (u!6 (u!un"t $ompe$( IIIun"t $ompe$( III&po("to$rom B/&po("to$rom B/ +uta(" no$tah +uta(" no$tah po"nt mutat"onpo"nt mutat"on/ pa'a gen/ pa'a gen

m"tochon'r"a :m"tochon'r"a :

&8=M8G&8=M8G G886L&G886L&&8=L>G&8=L>GT88JM%T88JM%

&8=LG&8=LG &8==G&8==G

ua( '"-umpa" :ua( '"-umpa" : T6L67J%T6L67J%

P th NIDD+Pathogene(e NIDD+


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Pathogene(e NIDD+Pathogene(e NIDD+

Patophy("oog" (ecara genet"$ yangPatophy("oog" (ecara genet"$ yang

!er$orea(" 'engan!er$orea(" 'engan meta!o"(me energ"meta!o"(me energ" T"m!u oeh $arena pero!ahan cara h"'upT"m!u oeh $arena pero!ahan cara h"'up

'engan cepat terutama 'aam ha nutr"("/'engan cepat terutama 'aam ha nutr"("/

0e0e

Pan$rea( !er#ung(" untu$ men(e$re("$anPan$rea( !er#ung(" untu$ men(e$re("$an

In(u"nIn(u"n !ergantung pa'a energ"!ergantung pa'a energ"yangyang

'"!entu$ '" +t@'"!entu$ '" +t@

Pho(phor"a(" o$("'at"# pa'a ranta" re(p"ra(" +tPho(phor"a(" o$("'at"# pa'a ranta" re(p"ra(" +t

&TP&TP &TP 'epen'ent&TP 'epen'entPota(("um %hanne tertutupPota(("um %hanne tertutup %ac"um%ac"um

%hanne ter!u$a%hanne ter!u$a (e$re(" In(u"n(e$re(" In(u"n

+uta(" +tDN&+uta(" +tDN& penurunan &TPpenurunan &TP


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Tran(mem!raneTran(mem!raneProte"nProte"n0ynthe("(0ynthe("(


71/141

MutationsMutations A change in the &NA se5uence o theA change in the &NA se5uence o the genegene Mutations can alter protein product oMutations can alter protein product o &NA( stop gene ,orking&NA( stop gene ,orking

or acti6ateor acti6ate genegene

-udden( random alteration o original-udden( random alteration o original &NA code that changes&NA code that changes

the genotype9the genotype9

Can be caused by chemical or en6ironmental actors ) mutagens9Can be caused by chemical or en6ironmental actors ) mutagens9

0uatu peru!ahan 'aam urutan DN& 'ar" gen +uta(" 'apat mengu!ah pro'u$ prote"n 'ar" DN&, !erhent"!e$er-a atau menga$t"#$an gen gen

Peru!ahan t"!a4t"!a, aca$ 'ar" $o'e DN& a("yangperu!ahan genot"pe@ Dapat '"(e!a!$an oeh $"m"a atau #a$tor "ng$ungan 4mutagen@


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Type( o# +utat"onType( o# +utat"on

Deet"on 4 DN& m"(("ngDeet"on 4 DN& m"(("ng In(ert"on 4 e.tra DN& "n(erte'In(ert"on 4 e.tra DN& "n(erte'

E.pan("on 4 DN& repeat ("ze ha( "ncrea(e'E.pan("on 4 DN& repeat ("ze ha( "ncrea(e'

Po"nt +utat"on 4 change "n one !a(ePo"nt +utat"on 4 change "n one !a(e

Penghapu(an 4 DN& h"angPenghapu(an 4 DN& h"ang

Peny"("pan 4 DN& e$(tra '"("("p$anPeny"("pan 4 DN& e$(tra '"("("p$an

E$(pan(" 4 DN& u$uran uang" teahE$(pan(" 4 DN& u$uran uang" teah

men"ng$atmen"ng$at+uta(" t"t"$ 4 peru!ahan 'aam (atu !a("(+uta(" t"t"$ 4 peru!ahan 'aam (atu !a("(


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Type( o# +utat"onType( o# +utat"on"n co'"ng (e3uence/"n co'"ng (e3uence/

&G% TT% G&% %%G&G% TT% G&% %%G "' type*-en"( "ar"' type*-en"( "ar

&G% T%G &%% %G&G% T%G &%% %G Deet"on*penghapu(anDeet"on*penghapu(an&G% TT% %G& %%% G&G% TT% %G& %%% G In(ert"on*peny"("panIn(ert"on*peny"("pan

&G% TT% TT% G&% %%G&G% TT% TT% G&% %%G E.pan("on*e$(pan("E.pan("on*e$(pan("

&G% TT% G&% %GG&G% TT% G&% %GG Po"nt mutat"on*t"t"$ muta("Po"nt mutat"on*t"t"$ muta("


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POINT +1T&TIONPOINT +1T&TION

11&&&&

Term"nat"on %o'on/Term"nat"on %o'on/

11%%&&

%o'on #or 0er"ne/%o'on #or 0er"ne/

11%%11

%o'on #or 0er"ne/%o'on #or 0er"ne/

%%%%&&

%o'on #or Pro"ne/%o'on #or Pro"ne/


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E.pre(("on o# Gene(E.pre(("on o# Gene(

GenotypeGenotype44 actua genet"c ma$eup o# "n'"5"'ua@actua genet"c ma$eup o# "n'"5"'ua@ PhenotypePhenotype44 o!(er5e' tra"t #or "n'"5"'ua@o!(er5e' tra"t #or "n'"5"'ua@

Phenotype w" !e !a(e' on actua genotype an' how eachPhenotype w" !e !a(e' on actua genotype an' how each

gene "( e.pre((e'@gene "( e.pre((e'@

0"nce you ha5e a pa"r o# gene( they #orm an0"nce you ha5e a pa"r o# gene( they #orm anaeeaee@@

Each one may !e 'om"nate, rece(("5e or (ome com!"nat"on@Each one may !e 'om"nate, rece(("5e or (ome com!"nat"on@

Genot"pe 4 genet"$ "n'"5"'u yang (e!enarnya@Genot"pe 4 genet"$ "n'"5"'u yang (e!enarnya@

Fenot"p 4 ("#at yang '"amat" untu$ "n'"5"'u@Fenot"p 4 ("#at yang '"amat" untu$ "n'"5"'u@

Fenot"p a$an '"'a(ar$an pa'a genot"pe yang (e!enarnya'anFenot"p a$an '"'a(ar$an pa'a genot"pe yang (e!enarnya'an

!aga"mana ma("ng4ma("ng gen '"e$(pre("$an@!aga"mana ma("ng4ma("ng gen '"e$(pre("$an@

2arena &n'a mem""$" (epa(ang gen mere$a2arena &n'a mem""$" (epa(ang gen mere$a

mem!entu$(e!uah ae@mem!entu$(e!uah ae@

+a("ng4ma("ng 'apat men'om"na(", re(e("# atau !e!erapa+a("ng4ma("ng 'apat men'om"na(", re(e("# atau !e!erapa

$om!"na("@$om!"na("@

E.ampeE.ampe


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E.ampeE.ampe Hemoph""aHemoph""a44& (e. "n$e' genet"c '"(or'er "n wh"ch !oo' cott"ng "(& (e. "n$e' genet"c '"(or'er "n wh"ch !oo' cott"ng "(

'e9c"ent 4 ac$ o# the nece((ary (u!(trate throm!ropa(t"n@'e9c"ent 4 ac$ o# the nece((ary (u!(trate throm!ropa(t"n@

Hemoph""a &Hemoph""a &44 ac$ o# ant"hemoph""c go!u"n@ac$ o# ant"hemoph""c go!u"n@

+o(t common type 7>? o# ca(e(/@+o(t common type 7>? o# ca(e(/@

Hemoph""a BHemoph""a B4 'e#ect "n throm!opa(t"c component 4 a m"'er #orm o#4 'e#ect "n throm!opa(t"c component 4 a m"'er #orm o#

the '"(ea(e@the '"(ea(e@

0e. "n$e'0e. "n$e'4 tra"t #oun' on Z chromo(ome@4 tra"t #oun' on Z chromo(ome@ Hemo9"a 4 0e!uah gangguan genet"$ ter$a"t (e$( '" manapem!e$uanHemo9"a 4 0e!uah gangguan genet"$ ter$a"t (e$( '" manapem!e$uan

'arah $e$urangan 4 $urangnya throm!ropa(t"n(u!(trat yang '"peru$an@'arah $e$urangan 4 $urangnya throm!ropa(t"n(u!(trat yang '"peru$an@

Hemo9"a & 4 $urangnya ant"hemoph""c go!u"n@Hemo9"a & 4 $urangnya ant"hemoph""c go!u"n@

en"( yang pa"ng umum 7>? $a(u(/@en"( yang pa"ng umum 7>? $a(u(/@

Hemo9"a B 4 cacat 'aam $omponen throm!opa(t"c 4 !entu$r"ngan 'ar"Hemo9"a B 4 cacat 'aam $omponen throm!opa(t"c 4 !entu$r"ngan 'ar"

penya$"t@penya$"t@

0e$( ter$a"t 4 ("#at '"temu$an pa'a $romo(om Z@0e$( ter$a"t 4 ("#at '"temu$an pa'a $romo(om Z@

Z %hromo(omeZ %hromo(omep==@8

==@=


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Z %hromo(omeZ %hromo(omep

3

==@6

=6@8=6@=

=6@6

66@M66@866@=866@==

66@=6 66@666@666@=6=

68=6@6

=6@=

=6@8

==@6==@=

==@8

=8=M

=E

=L

=K

=7

coagualation factor '-, hemophilia

blue.monochromatic color blindness

coagulation factor /'''c, hemophilia A

homose0uality, male

cleft palate

gro1th control factor, -.lin2ed

-g blood roup

ocular albinismsensorineural deafness

anemia, sideroblastic, 1ith

Spinocerebellar ata0ia

lymphoproliferatie syndrome

Simpson dysmorphia syndrome

E E


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E.ampeE.ampe The hemoph""a tra"t "(The hemoph""a tra"t "( rece(("5erece(("5ean' ony pa((e' 5"a thean' ony pa((e' 5"a the Z chromo(omeZ chromo(ome@@

&( a re(ut, #emae( are much e(( "$ey to contract th"( '"(or'er@&( a re(ut, #emae( are much e(( "$ey to contract th"( '"(or'er@ Fre3uency o# hemoph""a tra"t@Fre3uency o# hemoph""a tra"t@

Femae( 4 carr"er 4 6 "n >,>>>Femae( 4 carr"er 4 6 "n >,>>>

Femae( 4 hemoph""c 4 6 "n 6>>,>>>,>>>Femae( 4 hemoph""c 4 6 "n 6>>,>>>,>>>

+ae( 4 hemoph""c 4 6 "n 6>>,>>>+ae( 4 hemoph""c 4 6 "n 6>>,>>>

& hemoph""c mae( are a(o carr"er(@& hemoph""c mae( are a(o carr"er(@

0"#at hemo9"a a'aah re(e("# 'an hanya uu( meau" $romo(om0"#at hemo9"a a'aah re(e("# 'an hanya uu( meau" $romo(om

Z@ &$"!atnya, perempuan (angat $ec" $emung$"nannya untu$Z@ &$"!atnya, perempuan (angat $ec" $emung$"nannya untu$

$ontra$ gangguan "n"@$ontra$ gangguan "n"@

Fre$uen(" ("#at hemo9"a@Fre$uen(" ("#at hemo9"a@

an"ta 4 pem!awa 4 6 '" antara >@>>>an"ta 4 pem!awa 4 6 '" antara >@>>>an"ta 4 hemoph""c 4 6 '" 6>>@>>>@>>>an"ta 4 hemoph""c 4 6 '" 6>>@>>>@>>>

Pr"a 4 hemoph""c 4 6 'aam 6>>@>>>Pr"a 4 hemoph""c 4 6 'aam 6>>@>>>

0emua a$"4a$" hemoph""c -uga pem!awa@0emua a$"4a$" hemoph""c -uga pem!awa@

Pe'"gree o# Hemoph""aPe'"gree o# Hemoph""a


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g pg p

"n One Fam"y"n One Fam"y

female

normal male

hemophilic male

+utat"on(+utat"on(


80/141

+utat"on(+utat"on( Few mutat"on( ha5e a po("t"5e eAect@Few mutat"on( ha5e a po("t"5e eAect@

There areThere are < M>>> $nown human genet"c '"(ea(e(@ +any re(ut #rom< M>>> $nown human genet"c '"(ea(e(@ +any re(ut #rommutat"on o# a ("nge gene@mutat"on o# a ("nge gene@

0"c$e ce anem"a0"c$e ce anem"a@@ +utat"on o# gene that ma$e( part o# hemogo!"n+utat"on o# gene that ma$e( part o# hemogo!"n@@

&!"n"(m@&!"n"(m@ )ac$ o# a!""ty to pro'uce tyro("na(e wh"ch catayze( the)ac$ o# a!""ty to pro'uce tyro("na(e wh"ch catayze( the

con5er("on o# tyro("ne to DOP&@con5er("on o# tyro("ne to DOP&@

Be!erapa muta(" mem""$" e#e$ po("t"#@Be!erapa muta(" mem""$" e#e$ po("t"#@

&'a < M>>> '"$etahu" penya$"t genet"$ manu("a@ Banya$ ha("&'a < M>>> '"$etahu" penya$"t genet"$ manu("a@ Banya$ ha("

'ar" muta(" gen tungga@'ar" muta(" gen tungga@

&nem"a (e (a!"t@ +uta(" gen yang mem!uat !ag"an 'ar"hemogo!"n@&nem"a (e (a!"t@ +uta(" gen yang mem!uat !ag"an 'ar"hemogo!"n@

&!"n"(me@ 2urangnya $emampuan untu$&!"n"(me@ 2urangnya $emampuan untu$

mengha("$ant"ro("na(e yangmengha("$ant"ro("na(e yang

meng$ata"("( $on5er(" t"ro("n untu$ 'opa@meng$ata"("( $on5er(" t"ro("n untu$ 'opa@

+utagen"c &gent(+utagen"c &gent(


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+utagen"c &gent(+utagen"c &gent( Ra'"at"on:Ra'"at"on:

Ion"z"ng 4 Z4ray(,Ion"z"ng 4 Z4ray(, ray(, co(m"c ray(ray(, co(m"c ray(Non4"on"z"ng 4 1 "ghtNon4"on"z"ng 4 1 "ght

%hem"ca:%hem"ca:

Reactant( w"th !a(e( 4 #orma'ehy'eReactant( w"th !a(e( 4 #orma'ehy'e

Ba(e anaog( 4 =4am"nopur"ne, 4Ba(e anaog( 4 =4am"nopur"ne, 4

!romourac"!romourac"&cr"'"ne 'ye( 4 proCa5"n&cr"'"ne 'ye( 4 proCa5"n

&$yat"ng agent( 4 mu(tar' ga(e(&$yat"ng agent( 4 mu(tar' ga(e(

Other( 4 carc"nogen(Other( 4 carc"nogen(

DN& +utat"on an' Repa"rDN& +utat"on an' Repa"r


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DN& +utat"on an' Repa"rDN& +utat"on an' Repa"r

%e( conta"n many DN& repa"r mechan"(m(@%e( conta"n many DN& repa"r mechan"(m(@

Yea(t 4 at ea(t > repa"r enzyme( are $nown@Yea(t 4 at ea(t > repa"r enzyme( are $nown@ E.ampeE.ampe4 e.po(ure to 1 "ght@4 e.po(ure to 1 "ght@

11 4 H"gh energy "ght@4 H"gh energy "ght@

4 hat cau(e( tann"ng@4 hat cau(e( tann"ng@

4 %au(e( #ormat"on o# thym"ne '"mer@4 %au(e( #ormat"on o# thym"ne '"mer@

4 at ow e5e(, "t can !e repa"re'@4 at ow e5e(, "t can !e repa"re'@4 at h"gh e5e(, "t can !e 'ea'y@4 at h"gh e5e(, "t can !e 'ea'y@

0e mengan'ung me$an"(me per!a"$an DN& !anya$@0e mengan'ung me$an"(me per!a"$an DN& !anya$@

Rag" 4 (et"'a$nya > enz"m per!a"$an '"$ena@Rag" 4 (et"'a$nya > enz"m per!a"$an '"$ena@

%ontoh 4 paparan ("nar 1@%ontoh 4 paparan ("nar 1@

1 4 ("nar energ" t"ngg"@1 4 ("nar energ" t"ngg"@

4 &pa yang menye!a!$an tann"ng@4 &pa yang menye!a!$an tann"ng@

4 Penye!a! pem!entu$an '"mer t"m"n@4 Penye!a! pem!entu$an '"mer t"m"n@

4 Pa'a t"ng$at ren'ah, 'apat '"per!a"$"@4 Pa'a t"ng$at ren'ah, 'apat '"per!a"$"@

4 Pa'a t"ng$at t"ngg", 'apat memat"$an@4 Pa'a t"ng$at t"ngg", 'apat memat"$an@

Photo'"mer"zat"onPhoto'"mer"zat"on


83/141

\

&

\

%

\

G

\

T

\

T

\

%

\

&

\

TT\

T\

G\&\

&\%\

G\

&\

\&

\%

\G

\%

\&

\T

T\

T\

G\

%\

G\

&\

thymine

dimer

U/ light

"0posure to U/ light can

cause ad3acent thymines tocoalently lin24

This results in a distortion of

the )NA

molecule and brea2s the

hydrogenbonding 1ith theadenine4

Paparan ("nar 1 'apatmenye!a!$an thym"ne( !er'e$atanuntu$ "n$ $o5aen@

Ha "n"mengha("$an '"(tor(" DN&moe$u h"'rogen 'an"(t"rahat"$atan 'engan thea'en"ne@

PENA%IT GENETI%


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$$ %ELOMPO%&%ATAGORI%ELOMPO%&%ATAGORI 6@ 2ea"nan pa'a 6 gen tertentu6@ 2ea"nan pa'a 6 gen tertentu

=@ 2ea"nan yang mut"#a$tor=@ 2ea"nan yang mut"#a$tor

8@ &noma" pa'a %hromo(ome8@ &noma" pa'a %hromo(ome M@ +uta(" pa'a (e4(e (omat"(M@ +uta(" pa'a (e4(e (omat"(

] K> ?] K> ?auto(oma 'om"nantauto(oma 'om"nant => ?=> ?auto(oma re(e(("#auto(oma re(e(("#

.4"n$e'.4"n$e' 6> ? 6> ?

PENA%ITPENA%ITGENETI%GENETI%

P ti &D ( i iP ti &D ( i i


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Pen'ertian&De(nisi )Pen'ertian&De(nisi )

&ee&ee: gen 'engan !entu$ yang !er!e'a: gen 'engan !entu$ yang !er!e'apa'a )ocu( yang (amapa'a )ocu( yang (ama HapotypeHapotype: (eperang$at DN& 4+ar$er: (eperang$at DN& 4+ar$er

yang ter'apat pa'a (atu ocu(, yangyang ter'apat pa'a (atu ocu(, yang

mana '"turun$an (e!aga" (atu $e(atuanmana '"turun$an (e!aga" (atu $e(atuan GenotypeGenotype: $on(t"tu(" aee pa'a (uatu: $on(t"tu(" aee pa'a (uatuocu( tertentu $e'ua hapotype pa'aocu( tertentu $e'ua hapotype pa'aocu( ter(e!ut/ocu( ter(e!ut/

PhanotypePhanotype: (uatu pertan'a yang '"$ena": (uatu pertan'a yang '"$ena"(e!aga" ha(" genotype 'an "ng$ungan(e!aga" ha(" genotype 'an "ng$ungan Homozygote * HeterozygoteHomozygote * Heterozygote: $e'ua: $e'ua

aee pa'a (atu ocu( "'ent"$ * !er!e'aaee pa'a (atu ocu( "'ent"$ * !er!e'a

Conto*Conto*penya+itpenya+itmole+,lermole+,ler))


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p yp y

Gen norma H! :Gen norma H! : &&** && 'an'an **

Thaa((em"aThaa((em"apo"ntpo"ntmutat"onmutat"on//::TT** && atauatau TT** TT

Thaa((em"aThaa((em"a'eet"on'eet"on/ :/ :

44** 4 4*4*4 4 4 * 4 4 * 4 4*4 4 H!H/ 44*44*4 4 H!H/ 44*44

H!H!Bart(Bart(Hy'rop(Hy'rop(Feta"(Feta"(// &uto(oma&uto(omare(e(("#re(e(("#:: Pe'"greePe'"gree5ert"$a5ert"$a/,/,

!"a(anya !er(au'ara 'an $e'ua!"a(anya !er(au'ara 'an $e'ua

orangtuanya (ehatorangtuanya (ehat %y(t"c%y(t"cF"!ro("(F"!ro("(penya$"t gangguan #ung("penya$"t gangguan #ung("$e@ E$(o$r"n , m"(anya penya$"t (auran$e@ E$(o$r"n , m"(anya penya$"t (auranna#a( $ron"(, mecon"um "eu( pa'ana#a( $ron"(, mecon"um "eu( pa'a

neonatu(, '/@neonatu(, '/@


87/141

Conto* penya+it mole+,ler )Conto* penya+it mole+,ler )

&uto(oma&uto(oma'om"nant'om"nant:: Pe'"greePe'"gree5ert"$a,5ert"$a,hor"zontahor"zonta/, ter'apat pa'a (et"ap genera(",/, ter'apat pa'a (et"ap genera(",$ea"nan > ? !er"("$o$ea"nan > ? !er"("$o

%horea Hunt"ngton, Poycy(t"c 2"'ney,%horea Hunt"ngton, Poycy(t"c 2"'ney,Fam""a Hypertrophy %ar'"omyopathy,Fam""a Hypertrophy %ar'"omyopathy,+ar#an 0yn'rome,+ar#an 0yn'rome,Oto($ero(eOto($ero(e''

Z4"n$e'Z4"n$e': pa'a a$"4a$" homozygote 'an: pa'a a$"4a$" homozygote 'anperempuan heterozygote@perempuan heterozygote@

Hemo9"a & III/ : =L e.on, ] 67L $!, .3=7Hemo9"a & III/ : =L e.on, ] 67L $!, .3=7 Hemo9"a B IZ/ : 7 e.on, ] 8M $!, .3=L 4Hemo9"a B IZ/ : 7 e.on, ] 8M $!, .3=L 4

=K=K Frag"e(Frag"e(ZZ0yn'rome0yn'rome: Z3 =K@ 8, : Z3 =K@ 8, %%G%%G//nn


88/141

Conto* penya+it mole+,ler )Conto* penya+it mole+,ler )

+yoton"c+yoton"cDy(trophyDy(trophy: 6J3 68@8, : 6J3 68@8, &G%&G%//nn Duchenne 'an Bec$er Dy(trophy : L ?Duchenne 'an Bec$er Dy(trophy : L ?

'eet"on, KJ e.on =8>> $!/, Zp=6,'eet"on, KJ e.on =8>> $!/, Zp=6,Dy(trop"nDy(trop"nM=K $D/,M=K $D/,'"agno(e'"agno(eprenataprenata

6J7K6J7K// Penya$"t genet"$ yang mut"#a$torPenya$"t genet"$ yang mut"#a$tor::

6@ 2ea"nan pem!uuh 'arah -antung6@ 2ea"nan pem!uuh 'arah -antung

=@ Hyperten("=@ Hyperten("

8@ 2ea"nan -"wa8@ 2ea"nan -"waM@ Demen("aM@ Demen("a

@ IDD+@ IDD+

L@ %ancer, 'L@ %ancer, '

Po"mera(ePo"mera(e %ha"n%ha"n React"onReact"on P%RP%R//


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TahunTahun 6J76J7,, 2ary2ary+u"(+u"(, %a"#orn"a, %a"#orn"a

+eto'e untu$+eto'e untu$meng4amp"9$a("meng4amp"9$a("me"patme"pat

gan'a$an/ #ragment DN& *gan'a$an/ #ragment DN& *GenGen

0e0e %hromo(ome%hromo(ome DN&DN& Gen t'' Tr"pet 'ar" Nu$eot"'a %o'on/Gen t'' Tr"pet 'ar" Nu$eot"'a %o'on/

T Thym"n/, % %yto("n/, & &'en"n/ 'anT Thym"n/, % %yto("n/, & &'en"n/ 'an

G Guan"n/ , (emuanya a'a LM %o'onG Guan"n/ , (emuanya a'a LM %o'on

L6 Tr"pet ^L6 Tr"pet ^ 6 0tart46 0tart4'an'an 8 0top48 0top4%o'on%o'on

Po"mera(ePo"mera(e%ha"n%ha"nReact"onReact"onP%RP%R//


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PCR memb,t,*+anPCR memb,t,*+an))

DN& atau RN&DN& atau RN& O"gonuceot"'pr"mer PRI+ER/O"gonuceot"'pr"mer PRI+ER/ Enzym Ta34Po"mera(eEnzym Ta34Po"mera(e %ampuran 'ar" M Ba(a%ampuran 'ar" M Ba(a

Nu$eot"'aNu$eot"'a

'NTP(/'NTP(/

6> . React"on( BuAer6> . React"on( BuAer )arutan +g%)arutan +g%== &at Therma4%ycer&at Therma4%ycer


91/141

T*ermal CyclerT*ermal Cycler

Pr"n("p :Pr"n("p :pero!ahanpero!ahantemperaturtemperatur(ecara(ecaraotomat"(otomat"('engan'enganwa$tuwa$tuyang teahyang teah'"tentu$an'"tentu$an

Dapat '"atur Program/Dapat '"atur Program/

%ontoh : J _%444444%ontoh : J _%444444 Denatura("Denatura(" _%444444_%444444Hy!r"'"(a("Hy!r"'"(a(" &nnea"ng&nnea"ng//K= _%444444K= _%4444440ynthe(e0ynthe(eDN&DN&

E.ten("onE.ten("on

//

)ama rea$(", !er5ar"a(" tergantung)ama rea$(", !er5ar"a(" tergantungpan-ang #ragment DN& = m"n@ : 6>>>pan-ang #ragment DN& = m"n@ : 6>>>Nu$eot"'a/Nu$eot"'a/


92/141

DNADNA

Dou!e (tran'e'Dou!e (tran'e' ("nge (tran'("nge (tran'

0e3uence 'ar" Nu$eot"'a0e3uence 'ar" Nu$eot"'a 0tart %o'on :0tart %o'on :&TG&TG

0top %o'on :0top %o'on :T&&T&&,,T&GT&G,,TG&TG& 0en(e0en(e: 4 &TG0tart/ 4GGT4T%T4GTT4G%T4: 4 &TG0tart/ 4GGT4T%T4GTT4G%T4

G%T4TGG4T&&0top/4 8G%T4TGG4T&&0top/4 8

&nt"(en(e&nt"(en(e

: 8 4 T&%4%%&4&G&4%&&4%G&4: 8 4 T&%4%%&4&G&4%&&4%G&4

%G&4&%%4&TT4 %G&4&%%4&TT4 E.onE.on 'an'an IntronIntron $e'ua !ag"an "n" 'apat$e'ua !ag"an "n" 'apat

!er#ung(" (e!aga"!er#ung(" (e!aga"+atr". untu$ amp"9$a("+atr". untu$ amp"9$a("//

RNARNA


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RNARNA

0"nge0"nge(tran'(tran' 1rac"1rac"penggant"penggant"Thym"nThym"n// Tran($r"p(" 'ar" DN&Tran($r"p(" 'ar" DN& mRN&mRN&

+engan'ung+engan'ung"n#orma(""n#orma("genet"$genet"$'ar"'ar"E.onE.on RN& !er#ung(" (e!aga"RN& !er#ung(" (e!aga"ReguatorReguator'ar"'ar"

E.pre("E.pre("GenGen(epert" Enzym/(epert" Enzym/

DN& (e!aga" +atr". 'ar" pro(e( tran($r"p("DN& (e!aga" +atr". 'ar" pro(e( tran($r"p("

'ar" (aah (atu (tran' DN&/'ar" (aah (atu (tran' DN&/

Dengan EnzymDengan EnzymRe5er(eRe5er(eTran($r"pta(eTran($r"pta(ecDN&cDN&compementarecompementareDN&DN&//

PrimerPrimer&&


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&&

Oli'on,cleoti-primerOli'on,cleoti-primer

0e3uence 'ar" Nu$eot"'a tertentu Intron atau0e3uence 'ar" Nu$eot"'a tertentu Intron atauE.on/ :E.on/ : => Q 8> !p=> Q 8> !p

Pr"n("p : merupa$an $ompementer 'ar" $e'uaPr"n("p : merupa$an $ompementer 'ar" $e'ua

(tran' DN& (tran' DN& Forwar' Pr"merForwar' Pr"mer'an'anRe5er(e Pr"merRe5er(e Pr"mer/@/@ Dar" $e'ua Pr"mer "n"Dar" $e'ua Pr"mer "n"'"("nthe(e DN& yang'"("nthe(e DN& yang!aru!aru

'an (eteru(nya !er#ung(" (e!aga" matr". untu$'an (eteru(nya !er#ung(" (e!aga" matr". untu$("$u( !er"$utnya@("$u( !er"$utnya@

Penentu !ag" #ragment DN& yang a$anPenentu !ag" #ragment DN& yang a$an'"amp"9$a(" '"amp"9$a(" 0e3uen(" nya (u'ah '"$etahu"0e3uen(" nya (u'ah '"$etahu"//


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Ta./PolimeraseTa./Polimerase 2enow 4 DN& Poymera(e E@%o"/2enow 4 DN& Poymera(e E@%o"/ 6J77 0a"$" et a@/ Ta34Poymera(e 'ar"6J77 0a"$" et a@/ Ta34Poymera(e 'ar"

Ba$ter"Ba$ter" Thermu( a3uat"cu(Thermu( a3uat"cu(

Hy!r"'"(a(" 'an Po"mer"(a("Hy!r"'"(a(" 'an Po"mer"(a("!erang(ung pa'a!erang(ung pa'atemp@ >4K> _%temp@ >4K> _%

6 Dou!e (tran' DN& , => %yce ,6 Dou!e (tran' DN& , => %yce ,

==>@>>> Dou!e (tran' DN&==>@>>> Dou!e (tran' DN&

Perhat"$an :Perhat"$an : BuAerBuAer yang '"guna$an 6>yang '"guna$an 6>

. RB/. RB/

D"peru$an : $on(entra("D"peru$an : $on(entra("+g%+g%== tertentutertentu


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Parameter lainnyaParameter lainnya

0ampe*+ater"a0ampe*+ater"a :: 'arah, ur"ne,'arah, ur"ne,

-ar"ngan !"op(", 'ar" autop(", #o((",-ar"ngan !"op(", 'ar" autop(", #o((",

ram!ut, -ar"ngan yang '"9.a("ram!ut, -ar"ngan yang '"9.a("'engan para`n atau #orma"n'engan para`n atau #orma"n

0emua pe$er-aan memeru$an0emua pe$er-aan memeru$an

$etepatan yang t"ngg"$etepatan yang t"ngg"p"petp"pet'engan u$uran 6*6>> /'engan u$uran 6*6>> /

P%R4RE&%TIONP%R4RE&%TION


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P%R RE&%TIONP%R RE&%TION

P%R4React"onP%R4React"on


98/141


99/141

P%R Pro'uct &mp"9$at/P%R Pro'uct &mp"9$at/


100/141

P%R Pro'uct &mp"9$at/P%R Pro'uct &mp"9$at/

Ge4ee$trophore(eGe4ee$trophore(e&garo(e&garo(e// 0outhern Bot Hy!r"'"(a(" 'engan0outhern Bot Hy!r"'"(a(" 'engan

0on'e DN& (pe("9$/0on'e DN& (pe("9$/Dot 4 Bot 'ete$(" : Enhance'Dot 4 Bot 'ete$(" : Enhance'

%hem"e )um"ne(cen(e E%)/%hem"e )um"ne(cen(e E%)/Denaturat"ng Gra'"ent GeDenaturat"ng Gra'"ent Ge

Ee$trophore(e Ee$trophore(e DGGEDGGE/ atau/ atauPFGEPFGE

Enzym Re(tr"$(" : Re(tr"ct"onEnzym Re(tr"$(" : Re(tr"ct"onEn'onucea(eEn'onucea(e

0e3uence anay(e0e3uence anay(eDN&DN&0e3uenc"ng0e3uenc"ng//


101/141


102/141


103/141


104/141

M0LEC;LAR M1CR0710L0G?M0LEC;LAR M1CR0710L0G?


105/141

Per$em!angan Te$noog" untu$Per$em!angan Te$noog" untu$D"agno(aD"agno(a Penentuan ang(ungPenentuan ang(ung(ecara opt"((ecara opt"(

m"$ro($op cahaya atau ee$tron/m"$ro($op cahaya atau ee$tron/

2utur2utur"(oa(", $oon", ("#at4("#at"(oa(", $oon", ("#at4("#atm"cro4organ"(me 'an rea$("m"cro4organ"(me 'an rea$("!"o$"m"a/!"o$"m"a/

Rea$("Rea$(" ant"gen4ant"!o'yant"gen4ant"!o'yenzyme4enzyme4"n$e', zat Cuor"(en(", aggut"na("/"n$e', zat Cuor"(en(", aggut"na("/ PenggunanPenggunante$noog" DN&te$noog" DN&::

Hy!r"'"(a(" (outhern !ot, 'ot4Hy!r"'"(a(" (outhern !ot, 'ot4

M0LEC;LAR M1CR0710L0G?M0LEC;LAR M1CR0710L0G?

&p"$a(" te$noog" DN&&p"$a(" te$noog" DN&


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INFE20I 0&)1R&N %ERN& :INFE20I 0&)1R&N %ERN& :

+em!e'a$an -en"( : pathogen Q non+em!e'a$an -en"( : pathogen Q nonpathogenpathogenE(cher"c"a co"E(cher"c"a co"//

1ntu$ !a$ter" yang (u"t '"$utur oeh1ntu$ !a$ter" yang (u"t '"$utur oeh

$arena memeru$an (yarat tertentu$arena memeru$an (yarat tertentu%ampyo!acter%ampyo!acter//+em!e'a$an -en"( !a$ter" 'ar" to."n+em!e'a$an -en"( !a$ter" 'ar" to."n

yang '"pro'u$("nya yang '"pro'u$("nya E@ co" 'an 0h"geaE@ co" 'an 0h"gea

(p(p@/@/0u!$a( !a$ter" :0u!$a( !a$ter" :%ampyo!acter,%ampyo!acter,

He"co!acterHe"co!acter+eng"'ent"9$a(" -en"(+eng"'ent"9$a(" -en"(Rota5"ru(Rota5"ru( &, B, %/&, B, %/



107/141


+en"ng"t"(+en"ng"t"(: Ne"((er"a men"ng"t"'"(: Ne"((er"a men"ng"t"'"(D"agno(e haru( cepat untu$ mencegahD"agno(e haru( cepat untu$ mencegah$omp"$a("@$omp"$a("@

Pewarnaan Gram 'apat '"a$u$an,Pewarnaan Gram 'apat '"a$u$an,

tetap" m"n"ma =M -amtetap" m"n"ma =M -amPem!er"an ant"!"ot"$a pa'a (ta'"umPem!er"an ant"!"ot"$a pa'a (ta'"um'"n"'"n"

mengganggu "nterpreta("mengganggu "nterpreta("

Tran(port !ahan pemer"$(aanTran(port !ahan pemer"$(aan

Te(t 2"t : ant"gen men"ngococcu(Te(t 2"t : ant"gen men"ngococcu(t"'a$ (en("t"# 'an #a(e po("t"# t"'a$ (en("t"# 'an #a(e po("t"#

& "$ " t $ " DN&& "$ " t $ " DN&


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Encepha"t"(Encepha"t"( : Herpe( ("mpe. type I: Herpe( ("mpe. type I

%&T 'an EEG non (pe("9$%&T 'an EEG non (pe("9$

&nt"!o'y cro(( react"on&nt"!o'y cro(( react"on

'engan'engan5"ru( type II5"ru( type II

2utur 5"ru( 'ar" !"op(" 'an2utur 5"ru( 'ar" !"op(" 'an

!er"("$o t"ngg"!er"("$o t"ngg"0ementara '"therapy 'ng : &cyco5"r0ementara '"therapy 'ng : &cyco5"r

Pemer"$(aan DN&Pemer"$(aan DN&

EncephaopathyEncephaopathy: P@ #ac"parum: P@ #ac"parum



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&p"$a(" te$noog" DN&p a( e o og

+yco!acter"um tu!ercuo("(+yco!acter"um tu!ercuo("(::+em!e'a$an -en"( atyp"c, 'engan+em!e'a$an -en"( atyp"c, 'enganm"$ro($op ha "n" t"'a$ mung$"nm"$ro($op ha "n" t"'a$ mung$"n

2utur : wa$tu yang ama 'an !a$ter"2utur : wa$tu yang ama 'an !a$ter"

haru( !anya$ terutama untu$haru( !anya$ terutama untu$(en("t"5"ty te(t/(en("t"5"ty te(t/

D"agno(e cepat '"!utuh$an, m"(@ pa'aD"agno(e cepat '"!utuh$an, m"(@ pa'a

pen'er"ta &ID0@pen'er"ta &ID0@D"temu" -en"( yangD"temu" -en"( yangmut" 'rug re("(tantmut" 'rug re("(tant

D"agno(a 'engan P%R 'an Hy!r"'"(a("D"agno(a 'engan P%R 'an Hy!r"'"(a("contoh : 'ot4!ot/contoh : 'ot4!ot/

RE01)T


110/141

RE01)TRE01)T

RE01)TRE01)T


111/141

RE01)TRE01)T


112/141


%hamy'"a%hamy'"a: (u(ah '"$utur@: (u(ah '"$utur@

Tran(port nya t"'a$ (ta!" me$an"(/Tran(port nya t"'a$ (ta!" me$an"(/#a(e po("t"# #a(e po("t"#

Te(t 2"t : EI& atau ImmunoCuor"(en("Te(t 2"t : EI& atau ImmunoCuor"(en("

#a(e po("t"# @#a(e po("t"# @

Hy!r"'"(a(" : ha(" !a"$@Hy!r"'"(a(" : ha(" !a"$@



113/141


IR10 : HI Q 6 'an HI Q =IR10 : HI Q 6 'an HI Q =Te(t 2"t ant"!o'y/ 'an DN& P%R/Te(t 2"t ant"!o'y/ 'an DN& P%R/

+a(aah : Progno(a pa("en yang (eroog" 4/ tetap"+a(aah : Progno(a pa("en yang (eroog" 4/ tetap"P%R ^/, Tran(#u(" 'arah !"a ant"!o'y ant" p=MP%R ^/, Tran(#u(" 'arah !"a ant"!o'y ant" p=M

^/ pa'a e(tern Bot 'ar" 'onor yang t"'a$^/ pa'a e(tern Bot 'ar" 'onor yang t"'a$!er"("$o, In#e$(" (ampa" ant"!o'y '"'ete$(" : 8!er"("$o, In#e$(" (ampa" ant"!o'y '"'ete$(" : 8!uan, In#e$(" pa'a !ay" 'ar" I!u yang (eroog" ^/!uan, In#e$(" pa'a !ay" 'ar" I!u yang (eroog" ^/

Prote"n : en5 : gp 6=> 'an gp M6, gag : p =MProte"n : en5 : gp 6=> 'an gp M6, gag : p =M

'an p 67'an p 67P%R : (en("t"# JJ? / 'an (pe("9$ JM,K ? /P%R : (en("t"# JJ? / 'an (pe("9$ JM,K ? /



114/141


%ytomegay 5"ru(%ytomegay 5"ru(: "mmuno(uppre("# atau: "mmuno(uppre("# atautran(panta(" organ, ataupun "n#e$(" "ntratran(panta(" organ, ataupun "n#e$(" "ntrauter"neuter"ne tu" 'an retar'a("tu" 'an retar'a("mentamenta@@

Hepat"t"(Hepat"t"(: mem!e'a$an 5"ru( % , pa'a: mem!e'a$an 5"ru( % , pa'atran(#u(" 6> ?/, 'engan EI& : t"'a$ 'apattran(#u(" 6> ?/, 'engan EI& : t"'a$ 'apat

+aar"a+aar"a: +"$ro($op"$ : ter!ata( , $apa("ta(: +"$ro($op"$ : ter!ata( , $apa("ta(tertentu, 'engan recom!"nant DN&tertentu, 'engan recom!"nant DN&

hy!r"'"(a(" repet"t"5e DN& atau RN&/hy!r"'"(a(" repet"t"5e DN& atau RN&/

Pap"oma 5"ru(Pap"oma 5"ru(: Type 6L 'an 67: Type 6L 'an 67 %ancer %ancer

type L 'an 66 %on'yoma@type L 'an 66 %on'yoma@

M0LEC;LARE 0N@0L0G?M0LEC;LARE 0N@0L0G?


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On$o( Yunan" / tumor ma((a/On$o( Yunan" / tumor ma((a/

%ancer '"'a(ar" oeh%ancer '"'a(ar" oeh$ea"nan$ea"nan

genet"$genet"$yang !erman"#e(ta("yang !erman"#e(ta("

pa'a t"ng$at (epa'a t"ng$at (e

Be!erapa !u$t" peran gen 'aamBe!erapa !u$t" peran gen 'aam

menye!a!$an (uatu tumor :menye!a!$an (uatu tumor :

Orang yang mempunya" $ea"nanOrang yang mempunya" $ea"nan

'aam'aamme$an"(me Repa"r DN&me$an"(me Repa"r DN&mempunya" r"("$o yang e!"hmempunya" r"("$o yang e!"h




116/141

Fa$torFa$tor$"m"a 'an 9("$ tertentu$"m"a 'an 9("$ tertentuyang menye!a!$an pero!ahanyang menye!a!$an pero!ahanpa'a DN&, a$an menye!a!$anpa'a DN&, a$an menye!a!$an$an$er p' hewan perco!aan/@$an$er p' hewan perco!aan/@

Pero!ahan pa'aPero!ahan pa'achromo(omechromo(omeWgerm "neXWgerm "neXmemu'ah$anmemu'ah$ant"m!unya $an$er@t"m!unya $an$er@

Phanotype yang ma"gna 'apatPhanotype yang ma"gna 'apat'"p"n'ah$an $epa'a (e norma'"p"n'ah$an $epa'a (e normameau"meau"gentran(#er@gentran(#er@

Pa'a (e4(e tumor '"-umpa"Pa'a (e4(e tumor '"-umpa"




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Be!erapa pengert"an 'aamBe!erapa pengert"an 'aamOn$oogy :On$oogy :

On$ogen 'an Protoon$ogenOn$ogen 'an Protoon$ogen Tumor(uppre((orgenTumor(uppre((orgen Tran(#ormat"on, Tran('u$t"on 'anTran(#ormat"on, Tran('u$t"on 'an

Tran(#e$t"onTran(#e$t"on %ancer yang !erhu!ungan%ancer yang !erhu!ungan

'engan'engan5"ru(5"ru( Pengaruh "ng$unganPengaruh "ng$unganterha'apterha'ap

ter a'"n a %ancer




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PROTOON2OGENPROTOON2OGEN: gen yang norma: gen yang normapa'a Genom yang !erperan pent"ngpa'a Genom yang !erperan pent"ng'aam Pro"#era(" 'an D"Aeren("a(" (e'aam Pro"#era(" 'an D"Aeren("a(" (e

ON2OGENON2OGEN: protoon$ogen yang oeh: protoon$ogen yang oeh$arena muta(" atau gangguan pa'a$arena muta(" atau gangguan pa'ae$(pre("nya menye!a!$an pro"#era(" (ee$(pre("nya menye!a!$an pro"#era(" (eyang neopa(t"(yang neopa(t"(

T1+OR01PPRE00OR GENT1+OR01PPRE00OR GEN: gen yang: gen yang!erperan pa'a pro"#era(" 'an!erperan pa'a pro"#era(" 'an'"Aeren("a(" (e, '"mana !"a gen "n" '"4'"Aeren("a(" (e, '"mana !"a gen "n" '"4"na$t"5a(" atau t"'a$ ter'apat, a$an"na$t"5a(" atau t"'a$ ter'apat, a$anter!entu$ (e neopa(t"(ter!entu$ (e neopa(t"(


Produk ProtoonkogenProduk Protoonkogen


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Produk ProtoonkogenProduk Protoonkogen

Inti Sel

FOS

MYC

JUN

Org

anell

a

ERB-B1

FMS

SIS

MOS

ABL

FMSSRC

RAS

Protoon$ogenProtoon$ogen DN&DN&Neopa(maNeopa(ma


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a!a! Tran(ocat"onTran(ocat"on %+)%+)

mycmyc Tran(ocat"onTran(ocat"on Bur$"tt )ymphomaBur$"tt )ymphoma er! Ber! B &mp"9cat"on&mp"9cat"on Ep"thecarc"noma,Ep"thecarc"noma,

&(trocytoma,&(trocytoma,

%a Oe(ophagu(%a Oe(ophagu(

neuneu &mp"9cat"on&mp"9cat"on &'eno %a +ammae,&'eno %a +ammae,

O5ar"um, Ga(ter/O5ar"um, Ga(ter/

mycmyc &mp"9cat"on&mp"9cat"on %a4 +ammae, Paru,%a4 +ammae, Paru,

1teru(, Oe(1teru(, Oe( N4mycN4myc &mp"9cat"on&mp"9cat"on Neuro!a(toma,Neuro!a(toma,

%a@Paru%a@Paru

Int4=Int4= &mp"9cat"on&mp"9cat"on %a4Oe(ophagu(%a4Oe(ophagu(

Protoon$ogenProtoon$ogen DN&DN&Neopa(maNeopa(ma


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24ra(24ra( Po"nt mutat"onPo"nt mutat"on %a41(u( !e(ar,%a41(u( !e(ar, Paru,Paru,

Pan$rea(,Pan$rea(,

+eanoma+eanoma

N4ra(N4ra( Po"nt mutat"onPo"nt mutat"on &+), &)), %a4&+), &)), %a4 Thyro"',Thyro"',

+eanoma+eanoma

H4ra(H4ra( Po"nt mutat"onPo"nt mutat"on %a41rogen"ta,%a41rogen"ta, %a4Thyro"'%a4Thyro"' ro(ro(Beum '"$etahu"Beum '"$etahu" &(trocytoma&(trocytoma

("(("( Beum '"$etahu"Beum '"$etahu" &(trocytoma&(trocytoma

(rc(rc Beum '"$etahu"Beum '"$etahu" %a4 1(u( !e(ar%a4 1(u( !e(ar



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TR&N0FOR+&TIONTR&N0FOR+&TION: ter!entu$nya: ter!entu$nyaphenotype neopa(t"( pa'a (ephenotype neopa(t"( pa'a (eyang normayang norma

TR&N0FE2TIONTR&N0FE2TION: gentran(#er,: gentran(#er,

ya"tu #ragment DN& '"ma(u$$anya"tu #ragment DN& '"ma(u$$an$e 'aam (e eu$aryot"$$e 'aam (e eu$aryot"$

TR&N0D12TIONTR&N0D12TION: pem"n'ahan gen: pem"n'ahan gen

'ar" (e!uah (e $epa'a (e a"n'ar" (e!uah (e $epa'a (e a"nmeau" "n#e$(" 5"ru(@meau" "n#e$(" 5"ru(@ Rea$(" tu!uh ata( %ancerRea$(" tu!uh ata( %ancer

$ompe.$ompe.tergantung !anya$tergantung !anya$




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RN& 5"ru( Retro5"ru(/RN& 5"ru( Retro5"ru(/!erperan pa'a!erperan pa'acarc"nogene(e@ 8 Gen Retro5"ru( :carc"nogene(e@ 8 Gen Retro5"ru( :

en5,gag, poen5,gag, po

Tran(#orma(" pa'a (eTran(#orma(" pa'a (e "nh"!"(""nh"!"("

$onta$ antar (e phenotype$onta$ antar (e phenotypeyang neopa(t"(yang neopa(t"(

4onc4onc: (e3uen(" DN& 'ar" Retro5"ru(: (e3uen(" DN& 'ar" Retro5"ru(

yang menye!a!$an tran(#orma(" (e@yang menye!a!$an tran(#orma(" (e@

%4onc%4onc: gen yang ter'apat pa'a (et"ap: gen yang ter'apat pa'a (et"ap

(e yang homoog 'engan 5"ra on$ogen(e yang homoog 'engan 5"ra on$ogen

RO10RO10 6J6>/ :6J6>/ :hu!ungan "ru( 4 %ancerhu!ungan "ru( 4 %ancer

a'a !"natan erco!aan



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Protoon$ogen ] L> -en"(, me"put" :Protoon$ogen ] L> -en"(, me"put" : 6@ Fa$tor pertum!uhan6@ Fa$tor pertum!uhan: "n'u$(": "n'u$("

pro"#era(" (e, !!rppro"#era(" (e, !!rp tran(#orma("tran(#orma("

pa'a (e "n5"tro/pa'a (e "n5"tro/

=@=@Re(eptornyaRe(eptornya: #m( 4 gen re(eptor: #m( 4 gen re(eptor

%0F46/ untu$ '"#eren("a(" +a$rophage%0F46/ untu$ '"#eren("a(" +a$rophage

8@ Prote"n 0"gna tran('u$t"on8@ Prote"n 0"gna tran('u$t"onpa'apa'a

mem!ran atau ("topa(mamem!ran atau ("topa(ma (econ'(econ'me((enger , m"(anya prote"n G@me((enger , m"(anya prote"n G@

M@ Prote"n yang ter"$at pa'a DN&M@ Prote"n yang ter"$at pa'a DN&tran($r"p("/tran($r"p("/




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%ontoh Neopa(t"c Tran(#ormat"on :%ontoh Neopa(t"c Tran(#ormat"on : 6@ Gentran(ocat"on6@ Gentran(ocat"on: !cr4a! chr@ J 'an: !cr4a! chr@ J 'an

==/==/

=@ Genamp"9cat"on=@ Genamp"9cat"on: N4myc gen 8>> .: N4myc gen 8>> .

pa'a Neuro!a(toma pa'a ana$4ana$pa'a Neuro!a(toma pa'a ana$4ana$ 8@ Po"nt mutat"on8@ Po"nt mutat"on: ra( mengontro GTP: ra( mengontro GTP

a$t"#/a$t"#/ GDP "na$t"#/GDP "na$t"#/

M@ In(ert"on gen 5"ru(M@ In(ert"on gen 5"ru(: 5"ru( Hepat"t"( B: 5"ru( Hepat"t"( B @ Tumor(uppre((orgen@ Tumor(uppre((orgen: p8 'an gen: p8 'an gen

ret"no!a(toma : regua(" ("$u( (e ret"no!a(toma : regua(" ("$u( (e (top(top

pa'a Gpa'a G66 untu$ DN& 4 repa"runtu$ DN& 4 repa"r//



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4 +echan"(m+echan"(m&'eno("ne&'eno("ne 8 cyc"c monopho(phate8 cyc"c monopho(phate


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&'eno("ne&'eno("ne8,4cyc"c monopho(phate8 , 4cyc"c monopho(phate

c&+P/c&+P/

cAMP

AdenylatecyclaseHormone Receptor

TransducerGProtein

ProteinKinaseA

StructuralProteins

EnzymesMembrane

Channels

ATP

(+,-)

(+,-)

Penerapan Te$noog" Gen*DN&Penerapan Te$noog" Gen*DN&


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'aam Therapy'aam Therapy

Pro'u$4pro'u$ !"ote$noog" :Pro'u$4pro'u$ !"ote$noog" : Fa$tor IIIFa$tor III:: =>>> && =L e.on, 67L $!,=>>> && =L e.on, 67L $!,

mRN& J $!/mRN& J $!/ 6J7M : con"ng gen Fa$tor III 'an6J7M : con"ng gen Fa$tor III 'an

e.pre("nyae.pre("nya 6J7K : Recom!"nant F III@6J7K : Recom!"nant F III@

Erythropo"et"n :Erythropo"et"n :'"$etahu" (e-a$ ] 7> thn'"$etahu" (e-a$ ] 7> thn 6J7 : con"ng 'an (e3uen("6J7 : con"ng 'an (e3uen("

Recom!"nant Erythropo"et"n@Recom!"nant Erythropo"et"n@

Penerapan Te$noog"Penerapan Te$noog"Gen*DN& 'aam TherapyGen*DN& 'aam Therapy


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Gen*DN& 'aam TherapyGen*DN& 'aam Therapy

Hormon pertum!uhan :Hormon pertum!uhan : 6J6 &&6J6 && 6JKJ : con"ng 'an e.pre(" gen GH6JKJ : con"ng 'an e.pre(" gen GH Fa$tor pertum!uhan pa'aFa$tor pertum!uhan pa'a

hematopo"et"$ (y(tem:hematopo"et"$ (y(tem: %0F %oony%0F %oony0t"muat"ng Factor(/ 'an Intereu$"ne0t"muat"ng Factor(/ 'an Intereu$"ne

%ontoh : G4%0F, +4%0F, G+4%0F%ontoh : G4%0F, +4%0F, G+4%0F

Intereu$"neIntereu$"ne : pro"#era(" 'an: pro"#era(" 'an'"Aeren("a(" (e, -uga pa'a rea$("'"Aeren("a(" (e, -uga pa'a rea$("

pera'angan 'an ("(tem "mmun"ta(@pera'angan 'an ("(tem "mmun"ta(@



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p g *p g


Pertanyaan :Pertanyaan :Therapy !aga"mana yang opt"maTherapy !aga"mana yang opt"ma &pa$ah pem!er"an tungga atau&pa$ah pem!er"an tungga atau

$om!"na("$om!"na(" 2om!"na(" yang !aga"mana2om!"na(" yang !aga"mana 2apan (e!a"$nya therapy '"a$u$an2apan (e!a"$nya therapy '"a$u$an

Baga"mana eAe$ (amp"ngnya terutamaBaga"mana eAe$ (amp"ngnya terutama'aam therapy -ang$a pan-ang/@'aam therapy -ang$a pan-ang/@



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Immun"(a(" :Immun"(a(" :

6J7= : 5a$("n Hepat"t"( 'ar" 5"ru(6J7= : 5a$("n Hepat"t"( 'ar" 5"ru(

yang '""na$t"#$an 'an '"murn"$anyang '""na$t"#$an 'an '"murn"$an

6J7K : pro'u$ te$noog" gen DN&6J7K : pro'u$ te$noog" gen DN&

recom!"nant/recom!"nant/

Pa(ma e.pan'er :Pa(ma e.pan'er :

H! recom!"nant pa'a E@ co" atau (eH! recom!"nant pa'a E@ co" atau (e

Rag"Rag" a`n"ta( O a`n"ta( O== men"ng$atmen"ng$at



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p g *p g


H! recom!"nant pa'a !a!" meau"H! recom!"nant pa'a !a!" meau"

tran(gen"c p"g@tran(gen"c p"g@

Pero!ahan pa'a gen a 'an BetaPero!ahan pa'a gen a 'an Beta %ontoh :%ontoh :Po("(" 6>7Po("(" 6>7gen Beta :gen Beta :

&(parag"n&(parag"n'"gant"$an oeh'"gant"$an oeh)y("n)y("n

+enurun$an a`n"ta( O$("gen@+enurun$an a`n"ta( O$("gen@ Fu(" 'ar" = gen aFu(" 'ar" = gen a H! e!"h (ta!"@H! e!"h (ta!"@

Penerapan Te$noog" Gen*DN& 'aamPenerapan Te$noog" Gen*DN& 'aam

TherapyTherapy


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Pro'u$ 'ar" gen untu$ therapy 'anPro'u$ 'ar" gen untu$ therapy 'anprophya."( :prophya."( :

Erythropo"et"nErythropo"et"n

In(u"nIn(u"n Hormon pertum!uhanHormon pertum!uhan

Fa$tor pem!e$uan 'arah IIIFa$tor pem!e$uan 'arah III

Pa(m"nogen a$t"5atorPa(m"nogen a$t"5ator

a$("n Hepat"t"( Ba$("n Hepat"t"( B

TherapyTherapy

Penerapan Te$noog" Gen*DN& 'aamPenerapan Te$noog" Gen*DN& 'aamTherapyTherapy


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Pro'u$ 'ar" gen untu$ therapy 'anPro'u$ 'ar" gen untu$ therapy 'anprophya."( :prophya."( : G+ Q%0FG+ Q%0F G4%0FG4%0F Intereu$"neIntereu$"ne Inter#eroneInter#erone Immuntherapy : ant"!o'yImmuntherapy : ant"!o'y

mono$onamono$ona 1ntu$ : tumor, '"mana &! '""$at$an1ntu$ : tumor, '"mana &! '""$at$an

'engan To."n, Ra'"onuc"'e,'engan To."n, Ra'"onuc"'e,

%hemotherapy%hemotherapy

Penerapan Te$noog" Gen*DN& 'aamPenerapan Te$noog" Gen*DN& 'aamTherapyTherapy


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TherapyTherapy

Re("(ten(" terha'ap o!at :Re("(ten(" terha'ap o!at : %hemotherapy : re("(ten(" "ntr"n("$%hemotherapy : re("(ten(" "ntr"n("$

atau '"'apatatau '"'apat

%ontoh +ethotre.ate%ontoh +ethotre.ate (ynthe(e(ynthe(eDHFR men"ng$at@DHFR men"ng$at@ Gentherapy :Gentherapy :Tran(#er mater"a genet"$ terha'ap (eTran(#er mater"a genet"$ terha'ap (e

atau organ"(me untu$ mengata(" (uatuatau organ"(me untu$ mengata(" (uatupenya$"t@ pa'a (e (omat"$ (a-a/penya$"t@ pa'a (e (omat"$ (a-a/

Penerapan Te$noog" Gen*DN& 'aamPenerapan Te$noog" Gen*DN& 'aamThTh


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TherapyTherapy

Gentherapy :Gentherapy :

Haemoph""a & atau BHaemoph""a & atau B

Hemogo!"nopathyHemogo!"nopathy

Penya$"t penurunan "mmun"ta( :Penya$"t penurunan "mmun"ta( :

'e9("en(" enzym &'eno("n'e(am"na(e'e9("en(" enzym &'eno("n'e(am"na(e

Gangguan ("$u( 1rea : Orn"th"neGangguan ("$u( 1rea : Orn"th"ne

tran(car!amoya(etran(car!amoya(e HGPRT : )e(ch4Nyhan 0yn'rome@HGPRT : )e(ch4Nyhan 0yn'rome@

Re("(ten(" terha'ap o!at :Re("(ten(" terha'ap o!at :


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Re("(ten(" terha'ap o!at :Re("(ten(" terha'ap o!at :

Re("(ten(" th' chemotherapy ut$Re("(ten(" th' chemotherapy ut$penya$"t "n#e$(" maupun tumor@penya$"t "n#e$(" maupun tumor@

%ontoh : +ethotre.ate : amp"9$a(" gen%ontoh : +ethotre.ate : amp"9$a(" gen

menye!a!$an (ynthe(e DHFRmenye!a!$an (ynthe(e DHFRmen"ng$atmen"ng$at netra"("r e#e$ o!at@netra"("r e#e$ o!at@

Po"nt mutat"on pa'a gen DHFR 'ar"Po"nt mutat"on pa'a gen DHFR 'ar"

para("t +aar"apara("t +aar"a re("(ten("re("(ten("Pyr"metam"n@Pyr"metam"n@

&p"$a(" gen 'aam Foren("$&p"$a(" gen 'aam Foren("$

0 ! t $ " DN& '"t $0 ! t $ " DN& '"t $


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0e!eum te$noog" DN& '"terap$an0e!eum te$noog" DN& '"terap$an

6JK7/ !"a(anya '"guna$an prote"n,6JK7/ !"a(anya '"guna$an prote"n,m"(anya ant"gen go@'arah, H)&, '@m"(anya ant"gen go@'arah, H)&, '@

6J7 : DN& Poymorph"(mu(@6J7 : DN& Poymorph"(mu(@

No5@6J7K : DN& (e!aga" !arang !u$t"No5@6J7K : DN& (e!aga" !arang !u$t"'" penga'"an '" Inggr"(@'" penga'"an '" Inggr"(@

0ampa" a$h"r 7>4an : e!"h 'ar" 6>>>0ampa" a$h"r 7>4an : e!"h 'ar" 6>>>

per$ara '"!antu oeh !u$t"4!u$t" DN&per$ara '"!antu oeh !u$t"4!u$t" DN&uga 'apat menentu$an Patern"tyuga 'apat menentu$an Patern"ty

Pro9 DN& t"ap "n'"5"'u !er!e'aPro9 DN& t"ap "n'"5"'u !er!e'a


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&p"$a(" gen 'aam Foren("$&p"$a(" gen 'aam Foren("$ 8> ? DN& eu$aryot"$ ter'"r" 'ar"8> ? DN& eu$aryot"$ ter'"r" 'ar"


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8> ? DN& eu$aryot"$ ter'"r" 'ar"8> ? DN& eu$aryot"$ ter'"r" 'ar"repet"t"5e (e3uence t"'a$ !er#ung("/repet"t"5e (e3uence t"'a$ !er#ung("/

Be!erapa $r"ter"a : m"$ro(ate"t 6Be!erapa $r"ter"a : m"$ro(ate"t 6$!/, m"n"(ate"t 648> $!/ 'an$!/, m"n"(ate"t 648> $!/ 'anma$ro(ate"t mega!a(e/@ma$ro(ate"t mega!a(e/@

+"n"(ate"t terutama !erperan 'aam+"n"(ate"t terutama !erperan 'aammenentu$an hu!ungan $e$euargaan@menentu$an hu!ungan $e$euargaan@ 0tu'" popua(" 'apat '"'a(ar$an pa'a0tu'" popua(" 'apat '"'a(ar$an pa'a

H)& genotype engan pen'e$ 'ar" %hr@H)& genotype engan pen'e$ 'ar" %hr@

L/L/ H)& -u

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