7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 1/17

SADRŽAJ:

UVOD………………………………………………………………………………………2

 NASLJEDNE BOLESTI……………………………………………………………………3

PODJELA NASLJEDNIH BOLESTI………………………………………………………4

SEKVENCIRANJE…………………………………………………………………………5

KAKO SE DIJAGNOSTICIRAJU NASLJEDNE BOLESTI………………………………8

VRSTE UZORAKA KOJE DOLAZE U LABORATORIJ…………………………………9

 NOVOROĐENAČKI PROBIR ILI SKRINING…………………………………………....!

PRENATALNA DIJAGNOSTIKA…………………………………………………………2

LABORATORIJA ZA HU"ANU GENETIKU…………………………………………....5

ZAKLJUČAK ………………………………………………………………………………#

LITERATURA………………………………………………………………………………$

1. UVOD

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 2/17

2

S%&'()*+ )',' -&/ 0()1*/&', 0 +**&* -&0 ,' * 0,* &'+ %*-% 0()1*0%*+&'6 (&')0(*, * &' ,&* ,1*7+* /+() * ) 7&' :-/*, /;%*)0)0 0 (%'()0 / -%01' ,*)/1(-<1** %/ *0()* 0,+/ 7*()6 -&& (' +**7()6 :1',* ,, ,07&'+&/ 0 +0&' %7&+ *7

 :*+&' 0 -&& (' +' <%10 * ,+< / +*& ',7&06 0*- &' &*- %*+*. A- (' (%1+',/+** +'-70- <0+* ,', * :10,0&')0, * &' +') %0' /0+&'+ +* ), :7*+/6 *70 &'

(%*-*- +':;+ ,+< %0'.O%*& 1* &' +*&7&' *:')0 10&*0,* U%0'+< -&0 -*'= >"0 &*%7&/&', / K/1?*+/ +() &' 70&'- 0 ,07() %&'1+0@0,*. E7I(1*6 82. S%*-& 7'()0 U%0'+0 &' * 0 70&'- (*, &' :)1'+ )1*0)06 * 0&*<+* 7'()0 &' &*-%*+* 0 7*<%1','+ )-10%*+&' 0()' &' %'70-* :1'+() +* ), :/)/6 &'1 &' 70&''+&' / 1*+,()*0&/ 7'()0 *7'- /0+-%0)0&'. P(7*+0- (.*..( -*'= >A77*;6 .. +0&' * 7'()6 * * +0&' * ( +&, 0 70&'-. I*- &'0&*<+()0-* 7&'+&* / +*& ',7&0 )'- / :'@0,* *- 0 &' /:1'070 (* 1*%0&'+0,',7&*,*6 +**, (' * F' 0&*<+()0-* 7&'+&* * ('<+' %'F' +0%' )' * /' 0 / 1*+</(%&')(-0 1*%0&'+0; ',*7&*.

2. NASLJEDNE BOLESTI

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 3/17

3

D0 <'+')0-' %&'-*6 -&0 (' *%0 :1/*%*+&', *%0(+()0 0,'/ +*(7&'0%*+&* 0 7&'+&*+*0%* (' ,'0@0+(-* 070 -70+0+* <'+')0-*. O%* 7*() <'+')0-' )-10%* /1-'6 0&*<+/7&'+&*6 :1'%0* :&*%/ 7&'+&* 0 +&'<% 70&''+&'.

 N*(7&'+' 7'()0 (/ 7'()0 -&' (/ <'+')(-0 /%&')%*+'. P*)<'+0 ,0-11<*+0,0 -* 0

,/)*@0&'6 ,</ * // /1@0 +'-< 7&'+&*.T0 0*0%*0 +*(7&'+0; 7'()0 (/ (,&')'+0 070 +* */)(,0,* 070 +* ;')'1(,0,*6 * :1@'(+*(7&'0%*+&* ,' 0)0 ,0+*+)*+ 070 1'@'(0%*+.

 N*(7&'+' 7'()0 +*()*&/ /(7&' )'F'+&* <*,')*6 * +' )'F'+&* &*&*@*6 *,')-* 070 *')-*-&' :1'()*%7&*&/ -+<'+0)*7+'6 * +' +*(7&'+' 7'()0.D(**+&* 0()1*0%*+&* +*(7&'* 7'()0 / 7&/0 /<7*%+, :0%*&/ +* *-7&/@0,* :10*70,0 ()*)0()0-0; :*)*-* :1*F'+&', :&*%7&0%*+&* 0()' 7'()0 / &'+& *,070&06 * :('+ -

 70*+*@*.

 N*(7&'+' 7'()0 0 +':1*%07+()0 ,</ (' 0()1*0%*)0 1(7%7&',6 +(+ +*(7&'+' 7'()0(' ,</ 1*+ 0&*<+()0@01*)0 *- (' :1*)0 1(7%+ ()*7 :10@' 0 +*0+ +* -&0 (' +'-*

7&'+&* :1'+('."'0@0+(-* <'+')0-* &' /)%107* * (' %'F0+* 7&/(-0; (0+* +1,*7+0; 0 *+1,*7+0;+*(7&'/&' : "'+'7%0, *-+0,*.

 N*(7&'+' 7'()0 &' ,</F' / :):/+()0 070&'0)0 (*, ;01/1-0, :/)',.

2.1. Mehanizmi transmisie

P '0+0@0&0 +*(7&'+' 7'()0 (' :1'+(' (;+ *-+0,* ,0+*+)+()0 0 1'@'(0%+()06 :&*%7&/&/F0 (' - :),*-* :1',* ,*)',*)0-0, *-+0,*6 *- +' :%7*' ()'107+(). O+'+*()*&/ /(7&' *+,*70&' &'+< 070 %0' ;1,(,(-0; <'+*. O%*& +'()*)*- ,' * )')0

 &'*+ 070 %0' <'+* &'+< %* ;1,(,* -&0 (*0+&*%*&/ ;,7<+0 :*1. T** (' * &'0+-/ -*' * &' ;')'10<)+*.K** &' +'()*)*- ,0+*+)*+6 )'F'+0 <'+6 F*- 0 -** &' &'0+06 %7&*+ &' * 0*%'1''+/ 7'(). A- &' +(07*@ ,*+' ;,0<)6 (%' +&'<% :),()% +*(70&'0F' 7'().A- &' ;')'10<)6 ;1,(,(- (%'+&' <*,')*6 ()*)0()0-0 )/,*'+6 *) F' &'+ 0&')'6+* %*6 7&'7 )0+' 7'()0.K** &' +*(7&'+* 7'() 1'@'(0%+*6 +* (' ,' :&*%0)0 &'0+ *- (/ )'F'+0 <'+0 :10(/)+0+* * ;1,(,* 0()< :*1*6 )&. -** &' &'0+-* ;,0<)+*.

U ), (7/*&/ 0&')' 1'+ &'+< 10)'7&* +(0@* +*(7&'+' 1'@'(0%+' 7'()0 7&') F' &'0+ *- &' 0 1/<0 10)'7& 7&' 0()' 7'()0 070 &' ;')'10<) * 7'() -&* &' / :0)*+&/1*% +(07*@ <'+')(-' ,*+'.D*-7'6 +*(7&'+0; 1'@'(0%+0; 7'()0 7&'%*&/ (*, ('-&' (/ 1'@'(0%+ ;,0<)+' **. Z< )<* +' ,</ -1 +'-70- <'+'1*@0&* ()*)0

 :10-10%'+' / 1*%0, +(0@0,*.

U 1*-/ '+)0:(-0 1*%0; 10)'7&* :10 */)(,+1'@'(0%+, +*(70&'0%*+&/ 7&'+&' ('6%&'1%*)+6 &*%7&* / +(/ =4. O7&'+&' (' / :),()%/ &*%7&* %* :/)* 'F'.

I()1*0%*+&' ,/(* +*(70&'0%*+&* - %&'-* (;%*F'+ &' ( %'70-0, )'-F*,*. "' ('

+*%'()0 1*,&'1+ ,*7 +0; 7&'+&* - -&0; (' )*& ,/( /(:&'7 *1', :1070+1'0)0. N*10) &' )'- /()*+%0)06 -70- <'+* (/&'7/&' / :&*%0 -&' 7'()06 :* (' /

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 4/17

4

%'F0+0 (7/*&'%* )1'* *%7&0)0 ( -+()*)*@0&,6 * / '%'+)/*7+, +*(7&'0%*+&/ +'-' 7'()0 %0' 7*0 / 01 ,0+*+)+0 070 1'@'(0%+0 ,/(6 )' * 70 (' 1*0 */)(,+, 070(:7+ %'*+, +*(7&'0%*+&/. K (%'<* )<* :-**7 (' (* * (' 1'@'(0%+0, +*0+,%'F0+, +*(7&'/&' )'' +*(7&'+' 7'()0 * ,0+*+)+0, 7*-'.

2.2. Varieteti nas!e"nih #$!esti

S:0(*- +*(7&'+0; 7'()0 &' / 0() %10&',' %17 %'70-0 0 %17 +':1'@0*+6 &'1 + :10&' (%'<* :0%* +* ()*)0()0-0, :*@0,* //F0 * +0 *+1,*7+0 <'+0 +0(/ ,0-1(-:(-0 %07&0%0,** ) ,</ :()*)0 *;%*7&/&/F0 /:)1'0 '7'-)1+(-< ,0-1(-:*.

 N*(7&'+' 7'()0 -&' (/ :1*F'+' &'+0, ,17-0 *+1,*7+0, ;1,(,, (/,*71&+'.

D,0+*+)+* 070 1'@'(0%+* (%&()%'+() +*(7&'+' 7'()0 :0%* 0 +* ()*)0()0-0, :&,%0,*

0&'+0, 0 1(7%+0; ()**7*6 )' &' /%0&'- ) )'- /)%10)06 (0, / 0%&'(+0, :('+0,(7/*&'%0,* -* ) &' /1'+* ;',70)0-* *+',0&*6 ;',070&*6 ;','1*7:0&*6 0). I%&'(+'

 7'()0 -1%0 0 -+* 7&'+&* 0,*&/ )*-' +*(7&'+/ :7</.D1/<' +*(7&'+' 7'()0 0(:7&*%*&/ (' *+,*70&*,* ,')*70,*6 *)0, 1*+* +'1%+*7&'+&* -* 0 %*10&')')0 ':07':(0&' (/ )*-' +*(7&'+' 7'()0. A70 :1' %0; 7'()0 /

 :1*%, (,0(7/ +':0)+ :()&' 0 +*(7&'+' :7<'6 +'&*(+' / +*/+, :<7'/6 *70()%*1+'= *7'1<0&(-* :7<* :%7&+* * *(),/6 K%0+-'% '',6 0).

%. &ODJELA NASLJEDNI' BOLESTI:

 N*(7&'+' 7'()0 0/ :F'+0) / &'+/ )10 (-/:0+'=

* H1,(,(-0 :1','F*&0 /-7&//&/ </0)*-6 %0*- 070 *+1,*7+/ <1*/ &'+<* 070 %0';1,(,*6 ()%*1*&/F0 %0*- 070 ,*+&*- +*(7&'+<* ,*)'10&*7*.

  "'+'7(-' 070 &'+()*%+ +*(7&'+' 7'()0 :10,*1+ (/ 1''+' &'+0, ,/)01*+0,<'+,. O%' 7'()0 :-*/&/ +*(7&'+' -*1*-)'1' :1',* -&0,* (' ,</ (%1()*)0 /*/)(,+0,0+*+)+'6 */)(,+ 1'@'(0%+' 070 %'*+'.

@ "/7)0*-)1(-' 7'()0 /1-%*+' (/ ,'/&'7%*+&', %0' <'+* 0 %0(' %*+&(-0;*-)1* 070 *-)1* -70+'. P1',* (' ,+<' %0; ,/7)0*-)1(-0; 7'()0 -* ) (/

'('+@0&*7+* ;0:'1)'+0&* 0 1*(@&': /(+' 0 +':@* :+*%7&*&/ / +'-0, *,070&*,*6+*(7&'0%*+&' &' -,:7'-(+ 0 100- &' * (1+0-' ,*+&0 +'< / 7'()0,* &'+< <'+*,'+'7(-0,.

(. SE)VEN*IRANJE

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 5/17

5

Se+,en-irane / <'+')0@0 &' ,')* -&, &' ,</F' /)%10)0 1'(70&' :&'0+0; <1*0%+0;'7','+*)* / %'70-& ,7'-/70. K DNK  0 RNK  /)%1/&' (' 1'(70&' +/-7')0*6 * -

 &'7*+'%0+* /%1/&' (' 1'(70&' *,0+-0('70+*. I,'/ ()*7< ('-%'+@01*+&' (' %'F :0+&'+**&+ -10()0 / ,'1+& 0&*<+()0@0. I,'&/ ()*7<6 :('+ / 0&*<+()0@0 100-* +*(7&'+0; 7'()0. D* 70 +'-0 :),*- / (%&0, <'+0,* +(0 :1,&'+/ +*(70&''+/

 :1'*-*6 * -&* ,' +*0)0 1*%& 1''+' +*(7&'+' 7'()0.

S'-%'+@01*+&' / )-/

S'-%'+@01*+&' DNK &' (%&'%1(*+ :')*- 0()1*0%*-' 1'%7/@0&' +* :7&/ <'+,0-'. O995 <0+' *+*( &' +* )*& +*0+ ('-%'+@01*+ <'+, 33! 1*700)0; 1<*+0*,* ,'/-&0,* 0 %&'-*. D'0101*+&' )-7&/*%*+&' <'+')0-< -* 01'-)+ +* 0%1/6 +*0,' +*+0%/ DNK &' * +*/+0-* /%0&'- &'*+ :('*+ :/;%*). A- &' DNK ('-%'+@* :+*)*6,F0 F' (' / :,F +*+&* <'+')(-, -/ 01'-)+ 1'0)0 ('-%'+@* *,0+-0('70+'-01*+< <'+:1/-)* :1)'0+*. D *+*( &' 1*%0&'+ %0' ,')* 1'0%*+&* ('-%'+@0DNK. R*+0&' &' ) 07 %'70-0 0 (-/: :/;%*)6 - (' ,'1+0, ,')*,* ('-%'+@01*+&'*+*( %0&* (-1 */),*)(-0.

 D%0&' +*&+**&+0&' ,')' DNK ('-%'+@01*+&* (/=

.re"eri-+ San/er )';+0-* '7'<*+)+ -10()0 :101+0 )- 1':70-*@0&' -* /1*- *('-%'+@01*+&' 0 +* &' &( /%0&'- ,0+*+)+ :10(/)+*.

2. Ma0imi!#ert )';+0-* / :10+@0:/ (' *01* +* -',0&(-, 1*7*<*+&/ :&'0+0; ** 0 /%, )1'+/)-/ &' %0(' 0+)'1'(*+)+* / :%&'(+, )1'+/)-/ &'1 (' (%' 1&'' -10()0.

U +%0&' %10&',' :&*%07* (' ,')* )%. P01('-%'+@01*+&* -&* +/0 ,</F+() /1*+<('-%'+@01*+&* -1 %0(-:*1*7'7+/ *-)0%+().

San/er se+,en-irane

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 6/17

6

S*+<'1 &' +*0,' 1*%0 %0&' ,')' ('-%'+@01*+&* +/-7'0+(-0; -0('70+*. O%&' F', :10-**)0 &'+/ +&0; "ez$0i met$"3 -&* (' :&*%07* 9$$. <0+'. DNK 1':70-*@0&* (' %0&* / :,F DNK :70,'1*' -&* /<1*/&' / 1*()/F0 1/<0 +0 DNK +*(/:1) 7''@', :70+/-7')0+, 7*+@/ ,*)10@0.

"'/)0, *- (' /,&'() :101+< +/-7')0* / :()/:-/ 1':70-*@0&' -10()0 -* :1');+0-23D0'(MNTP 23NTP6 +* F' +*-+ +&'<%' /<1*+&' 1':70-*@0&* +0* 0@'*%1('+*. T +*0 * +*-+ +&'<* +'@' 0)0 %0(' +0&'*+ +/-7')0 /<1*&'+ / +0 7*+*@. N*%, ,&'()/ F' +*()*)0 :1'-0 7*+@*. Z* (%*-/ */ G6T6C6 070 A :()&0 &'*+ <%*1*&/@0 23NTP. D*, 70 ,&'*%0+0 -&* (' ('-%'+@0+01* DNK :70,'1*/6 &'*+ 7*+*@

 :70+/-7')0* &'+' DNK6 )' +':;+* 4 <%*1*&/@' NTP(6 )' *)+ &'*+ NTP+:1 TNP6 +*-+ 1'*-@0&' F' +*()*)0 ('10&* DNK 7*+*@* -&0; (' (%*-0 *%1*%* &'+0,'0T.

S)1/-)/1* DNK 

D* 0 (' 1'07' (%' ')010 *' 0)0 F' +*1*%+ :1%''+* ')0101*700)* 1'*-@0&(-* :()/:-*. P10),' F' (' 0)0 0&'7%0 7*+*@*+0%0 1*700)' /0+' (*<%*1*&/F0, :10(/)+0, **,*.

 N* -1*&/ F', / (%*-,1'*-@0&(-, :()/:-/

'7'-)11', / %',* 0+,*@1M*,0+, <'7/ ('7'-)01*)0 :10(/)+' DNK +0%' 1*700)'/0+'. O%*& <'7 0,* %17 %'70-/1'7/@0&/ )*- * &' ,</F'%&0)0 DNK +0%' &'*+ 1/<<* *- -** (' +0 1*70-/&/(*, / &'+, +/-7')0/.

 

 N0%0 7*+@0 DNK F' 0)0 %07&0%0 )'- ) : (%*-, 1'*-@0+, :()/:-/ // 1*0*-)0%+,*1-01*+0. A- (' :1',* 1*0*-)0%+ ,*1-01*+, <'+')(-, ,*)'10&*7/ 070 '-(:+01*1'+<'+(-, 07,/6 ,F0 F', +* +&',/ / %0/ @1+0; 70+0&* )1*-* /0)0 *:0('1*0*-)0%+0; DNK +0%*.

A- &' +:1. - &'+< )*-%< +0* ** A**+0+ +* :0@0&*,* 456#! 0 8 +* F' (' 0 +*07,/ :&*%0)0 @1+' 70+0&' )1*-' )' %'700+'. T0,' F' 0)0 -**+ * +* )& :0@0&0 /('-%'+@0 DNK ()&0 *'+0+. A- (' /,&'() 1*0*-)0%+< ATP / 1'*-@0+, :()/:-/-10()0 1*0*-)0%+ GTP )' (*10 +0%' /0+' +:1. $#69$ 0 23 +*0)0 F' * (' +* ),,&'()/ +*7*0 ** </*+0+.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 7/17

7

T*- (' :0@0&* :&'0+*+' *' ,' 1'0)0 +* (+%/ :0@0&' +*'+' +*1'+<'+(-, 07,/ / %0/ @1+' )1*-*. Z* 0)*%*+&' %10&'+()0 (/ 1*%0&'+0 -,:&/)'1(-0

 :1<1*,0 )*- * &' 0 )*& :()/:*- %',* /1*+ 0 (* %'70-, )+F/. K S*+<'1 ,')',1*, & /')0 / 01 -,:7','+)*1+() **= A- &' A /<1*'+6 +* &' +*1*%+ (+%*+* 10<0+*7+, DNK +0/ T.

Ma0imi!#ret met$"a

"*0,G071') ,')* 1*%0&'+* 9$$. <0+' (' *01* +* -',0&(-& 1*<1*+&0 %7*()0)0; **. K* :1%6 &'*+ -1*&'%* DNK ,1* 0)0 1*0*-)0%+ ,*1-01*+. Z*)0, F' / ')0101*700)' 1'*-@0+' :(/' 0)0 1'*7001*+0 :()/:@0 (:'@00+0; 1*<1*+&0 **.

Z* (%*-/ */ :()&0 (:'@00+* 1<*+(--',0&(-* 1'*-@0&* -&* F' */ (:'@00+1*<1*0)0 0 )0,' F'6 +*-+ & &'+' -',0&(-' 1'*-@0&' -&* (70&'06 0*%*)0 :1'-0 / DNK7*+@/ +0/ P+%+ F' 0)0 0%'+0 1*<,'+)0 DNK 0&' F' %'700+' 0)0 )+ 1''+' /

 :1@'(/ DNK <'7'7'-)11''.

 N* (+%/ ('-%'+@0 ** &'+' DNK6 ,</F' &' (*+*)0 (*()*% :10:**&/F'< :1)'0+*. P)(' DNK ('-%'+@01*+&' %0&* 1' +'< ('-%'+@01*+&' :1)'0+*6 *+*( &' +*&'F' ,</F'

 1' /:+*)0 '0101*)0 ('-%'+@' :1)'0+* :/)', DNK ('-%'+@01*+&*6 +'< () &' ),</F' :()0F0 01'-)+0, ('-%'+@01*+&', :1)'0+*. DNK ('-%'+@01*+&' &' *+*( )70-

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 8/17

8

/+*:1'%*76 )*- * &' <'+')(-0 ,*)'10&*7 ,+<0; 1<*+0*,* %'F / :):/+()0 ('-%'+@01*++:1. ,+<' *-)'10&'6 -%*(@06 * :')-, 2!!4. <0+' '0101*+ &' 0 <'+, %&'-*.

4. )A)O SE DIJANOSTI*IRAJU NASLJEDNE BOLESTI5

Z* %'F0+/ +*(7&'+0; ,')*70-0; 7'()0 0&*<+()0-* *:0+&' -** 70&'+0- +* )','7&/

-70+0-0; (0,:),* :(/,+&* +* +'-/ %0; 10&')-0; 7'()0. I* )<* +*&'F' (70&'0

:('+0&* (:'@0&*70()0-* 1** 7'(+0-* 0 (+%+* 7*1*)10&(-* 0&*<+()0-* / +*&70&

1*%()%'+& /()*+%0 070 7+0@0. Z*)0, (' %0(+ 1'/7)*)0,* :1')1*<*6 7'(+0- /:/F/&' /

(:'@0&*7001*+' @'+)1' / -&0,* :()&0 0(-/()% / 0&*<+()0@0 0 70&''+&/ +*(7&'+0;

,')*70-0; 7'()06 * /1@0 (' / +*&%'F', 1&/ (7/*&'%* *7&' 1*/&/ / K70+0-,

*%/ * 7*1*)10&(-/ 0&*<+()0-/.

 P/) 0&*<+' :+'-* &' 0 /<6 * +* &' /%0&'- 1'/7)*) )0,(-< 1** 0 (/1*+&' 70&'+0-* 0

7*1*)10&(-< (7&*. "*+&0 1& +*(7&'+0; ,')*70-0; 7'()0 0&*<+()0@01* (' / -%01/

 :10;%*F'+< :1<*,* +%1'+*-< :101*.

S:'@00+()0 %' 7*1*)10&(-' 0&*<+()0-' :107*' 0 0+&'+0@' * +*(7&'+' ,')*70-'

 7'()0 0+0 (-/:0+* <)% #!! 7'()06 -&' (' / +*&%'F', 1&/ (7/*&'%* &*%7&*&/ %17

10&')-.

1 Laboratorij za dijagnostiku nasljednih i metaboličkih bolesti KBC Zagreb

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 9/17

9

L*1*)10&(-' :1')1*<' -&0,* &' ,</F' (/0)00 0&*<+()0-/ (/,+&/6 +*&%'F0, 0&'7, ('

+' ,</ */),*)001*)0 0 *;)0&'%*&/ /<)1*&+/ :10:1',/ /1-*. Z* :1%'+&' %'F'< 1&*

*+*70* :)1'+* (/ (:'@00+* +*+&* 0 %&')0+' 7*1*)10&(-< (7&*6 -* 0 :('+*

7*1*)10&(-* :1',*. I,&'1'+' %10&'+()0 (/ -10(+' &'0+ *- (' )/,*' /0,*&/F0 /

01 ()/:+' :*)-' 7'(+0-/ 0 %1','+/ /0,*+&* /1-*. Z*) 70&'+0@0 +*()&'1*@0+*7+ *01*)0 (:'@00+' :1')1*<' -&0,* (' 7'()0 / -&' (' :(/,+&*7 -*/&/

+(+ 0(-7&//&/.

U+*) ),'6 ,1*, 0)0 (%&'(+0 * 0 * :()*%7&*+&' (%0; -+*+0; 0&*<+* 7*1*)10&

,1* 0)0 (:1',*+ :1%0)0 %0' 2.!!! 1*700)0; (:'@00+0; *+*70*. T*-%' 0'*7+'

,</F+()0 +',* +0)0 &'*+ 7*1*)10& / (%0&')/. '70, +*<7*(0)0 * :1')1*<' -&' *+*( +0(/

()/:+' / B(+0 0 H'1@'<%0+0 :()&' / 0+',()%/. U+/)*1 ()1/+' 0 +*+()%'+'

 ,'/+*1+' *&'+0@' -&* (' *%0 +*(7&'+0, ,')*70-0, 7'()0,* :()&0 %'70-

1*/,0&'%*+&' 0 (:1',+() * :,F 0 (/1*+&/.

6. VRSTE U7ORA)A )OJE DOLA7E U LABORATORIJ

L*1*)10&(-* 0&*<+()0-* +*&'F' *:0+&' 0 /1*-* ,-1*F' 0 -1%0 / -&0,* (' ,&'1'

 :1,&'+' 1*0+' 0 +(* )%*10 -&' (/ :(7&'0@* :1','F*&* / ,')*70-0, :/)'%0,*.

O%0(+ -70+0-0, (0,:),0,*6 :+'-** &' ,*; :)1'+ *+*7001*)0 0 @'1'1(:0+*7+/

)'-/F0+/ 70-%1. U -*(+0&& *0 0&*<+()0-'6 '() &' :)1'+ 0 -1%0 /+/)*1 +'-70- (*)00%&0)0 (*, 1''+' ()*+0@' 7'/-@0)' 070 '10)1@0)'6 -*- 0 (' 0,&'107* :1'()*7*

*-)0%+() '+0,* <%1+< * +*()*7' :1,&'+'.

Z* :()*%7&*+&' +'-0; -+*+0; 0&*<+* +':;+* &' 0 ()*+0+* -/7)/1* 017*()* -' )'

 0:)*)0 ,00F* 070 &')1' -&0 (' ,1*&/ +*-+ /0,*+&* +* <%*1*&/F0 +*0+ :;1*+0)0 0

()*%0)0 7*1*)10&*.

 O(0, * :()*%7&*+&' 0&*<+'6 /1@0 :10()0/ 0 * -+)17/ 70&''+&* (%' %'F'< 1&*

 7'(+0-* 1*700)0; +*(7&'+0; ,')*70-0; 7'()0. U (%*-& (' 7+0@0 ,</ +*:1*%0)0

(+%+' 7*1*)10&(-' :1')1*<' * -** (' ' +'-' 1*0+' 0&*<+()0-' <&' 70&'+0@0 :(/,+&*&/ +* 10&')-/ 7'() +0 <%*1*&/F' /1-' 1, :), *7&/ 7*1*)10&*,* *

0&*<+()0-/ 7&'+&*.

U %'70-, 1&/ +*(7&'+0; ,')*70-0; 7'()0 -70+0-0 (0,:),0 %07&0%0 (/ %'F / &'&&

06 ()<* +*&%'F0 1& /1*-* /:/F/&/ :'0&*)10. P1@&'+&/&' (' * *1 - :() (%'

+%1'+*0 7/&' +'-' +*(7&'+' ,')*70-' 7'()0. N )1'* +*:,'+/)0 * &' &'+

07&'&* %0; 7'()0 ,</F+() 0)%*+&* / 07 -&& 0%)+& 06 :* / 7*1*)10&

()0/ 0 /1@0 1*(70; (*.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 10/17

10

8. NOVORO9ENA)I &ROBIR ILI S)RININ

T &' &'*+ 1<*+0*@0&(-0 70- :1%'+&* 0&*<+()0-' +*(7&'+0; ,')*70-0; 7'()0 -&0

(' :' :1%0)0 9#2. <0+' 0 / %'70-, 1&/ ',*7&* &' :()* *%'+* ,&'1*1*%()%'+' *)0)'. C07& ,/ &' (%*- +%1'+' +'-' ',7&' 070 1'<0&' )'()01*)0 +* 1''+'

+*(7&'+' ,')*70-' 7'()0 :10&' +'< (' :&*%' (0,:),0 0 7'() ()*%0 :(7&'0@'.

P1%0 (' )*- * (' %'F / :1070)/ (%*-, +%1'+')/ +*-*:* +'-70- -*:0 -1%0 +*

07)'1 :*:01 0 /1*- ,*; :*7&' / 7*1*)10& -&0 (' *%0 )*-%, 0&*<+()0-,. T1'*

+*<7*(0)0 * &' ) (*, :101.

 O+(+6 *- 1'/7)*) *+*70' /' :0)0%*+6 ) +' +*0 ,*; 0 :)%1/ 0&*<+'6 +'<

 :)1'/ ;0)+' :1%&'1' :()*%7&'+' (/,+&' (:'@00+0, 7*1*)10&(-0, :1')1*<*,*. O%*-*%

 :10()/: 0&*<+()0@0 &' (7'+ 0 :1*/,0&'%* 1/ (/1*+&/ 1070)*6 7*1*)10&*6 :'0&*)*1*610)'7&*6 1*%()%'+0; (7/0 0 1*%+0; 0+()0)/@0&*.

O 9$8. <0+' :1')1*/&' (' +* +*(7&'+0 ,')*70-0 :1','F*& 1*<1*+&' *,0+-0('70+'

'+07*7*+0+*6 '+07-')+/10&/6 * 985. <0+' 0 +* -+*)*7+/ ;0:)01'/6 7'() (,*+&'+'

/+-@0&' )0)+' 70&''. Z* )'()01*+&' %'F'< 1&* 7'()0 0Q /1-* -*:0 -1%0 +':;+* &'

(&')7&0%* )';+7<0&* )*+',(-' (:'-)1,')10&' ,*(* -&* (' / 1*%0&'+0, ',7&*,* -10()0

%'F /7&' ! <0+*

"*('+0

(:'-)1,')*1 

Masena s;e+tr$metria &' )';+0-* -&, (' *+*7001*&/ ,7'-/7' +* )','7&/ +&0;%' ,*(' 0+*&*. P1%0 -1*- :10 *+*700 ,7'-/7* &' 0+0*@0&*,7'-/7* / 0+0*)1/. N*()*70 0+0 ('

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 11/17

11

 :1%' -1 *+*70*)16 -&0 1*%*&* 0+' / :1()1/ 0070 %1','+/. I *+*70*)1*6 0+0 0/

+* ')'-)1 <&' :10%' '7'-)10+0 (0<+*7 -&0 (' ,' 1'<0()101*)0

+* (@07:(-:/6  :0(*/6 1*/+*7/ 070 +* +'-, 1/<, /1'*&/.

K* :10,&'1 (' ,' +*%'()0 +0 7'()0 0 :(7&'0@' 0()0; / (7/*&/ * (' +* %10&',' +' )-10&'6

) &( &'+, :)%1/&' %*+() * (' +* %10&',' /0 0 &'7/&' +* 0(:1*%*+ +*0+.

eni!+et$n3ria &' +*(7&'+* ,')*70-*  7'()  -&' 7*0 <+'()*)-* '+0,* '+07*7*+0+ ;01-(07**. E+0, &' +/*+ *

 :1')%1/ *,0+-0('70+* '+07*7*+0+ / )010+. K** / )0&'7/ +',* '+0,*6 7*0 +*-/:7&*+&* '+07*7*+0+* -&0 :1'7*0 / '+07-')+'6 -&0 (' ,</ )-10)0 / /10+/.

A- (' 7'() :1*%%1','+ +' )-10&' 0 +' 70&'06 ,' %'()0 )'F'+&* ,<*6 -&'1'/7)01* :()/:+0, 1*%&', ,'+)*7+' *()*7()0 0 +*:**&0,*.

A- (' '+07-')+/10&* )-10&' %7&+ 1*+ - +%1'+')*6 7*0 :):/+

+1,*7+< 1*%&* ,<*6 *70 (*, / :,F :('+' 0&')' -&* (*10 %17 ,*7

'+07*7*+0+* -1*&* 0%)*. S%* +%1'+* &'@* )'()01*&/ (' +* 7'() / :,F :('+<

)'()* G/);10' )'(). P(7&'0@'= ()'F'+&* CNS* 6 :(%0&')7&'+() -' 0 -('6 (,*+&'+*

(0+)'* *1'+*70+*. U 1*(7, 1<*+0,/ +' ()%*1* %'70-* ()'F'+&*. O:*(*+ &' * &'@/ 0

)1/+0@'. "</F* )'F'+&* :7*= ,0-1@'*70&*6 (1*+' ,*+' 0 )'F'+&* ,<*.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 12/17

12

<. &RENATALNA DIJANOSTI)A

P1'+*)*7+* 0&*<+()0-* /;%*F* 0&*<+()0-' ,')' -&0,* (' -*/&/ 070 0(-7&//&/

-1,(,(-' *+,*70&'6 %'70-0 1& /1'+0; ,')*70-0; :1','F*&* 0 +*(7&'+0; 7'()0%'*+0; / -1,(,6 1*(@&':0 -1*7&'+0@' (:0+* 00* 0 +0 1/<0; ,17-0;*+1,*7+()0 ')/(*.

U1'+' *+,*70&' &*%7&*&/ (' - 3 5 (%' +%1'+*0. N*()*&/ -* :(7&'0@*-,:70-*@0&* )0&'-, )1/+F' :10,&'10@' < 0+)1*/)'10+' 0+'-@0&' 070 * %10&',' :1*&*6+(+ -* :(7&'0@* -1,(,(-0; *+1,*7+()0. P10 ),' / :0)*+&/ ,' 0)0 :1','F*&

 &'+< &'0+< <'+* 070 %0' <'+* 0070 0,'+0-* -70* ,/7)0*-)10&*7+0 <**&.

 N*&%'F0 1& /1'+0; :1','F*&* +*()*&' +'%0(+ ()*1()0 10)'7&*.

T'- -** (/ / :0)*+&/ -1,(,(-' *+,*70&'6 +:1. )10(,0&* 2 D+% (0+1,6 (,*&0+, ()*1F/ 1*()' 100- :&*%' 7&'+&*. U-/:+0 (' 100- (:+)*+< &*%7&*+&* )10(,0&'2 :1@&'+&/&' +* =#5! =$!! :1*&*. P10 ),' %* /'()*7() %',* %*101* 0 %0(+ <0+*,* ,*&-' (@0701* 0,'/ =4! 0 =26!!!.

T*- )1/+0@* / 0 3 <0+/ 0,* 100- +*()*+-* D+%< (0+1,* :1@0&'+&'+ +*=8!!6 - %*& 100- / 0 35 <0+* 0+(0 =4!!. U:1*% 0 %< 1*7<* ('*,+0@'+)'* 0 -1,(,(-* *+*70* / ,+<0, ',7&*,* (*%&')/&/ )1/+0@*,* %'F +*-+ 35

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 13/17

13

<0+' 0%)*. V17 10&')-6 ( :1*(), ()*1()0 @* +*-+ 42. <0+' 0%)* /*%*&/ (')-*()' ,/)*@0&' :1,&'+' &'0+0+0; <'+*.

 N*&+**&+0&0 +'0+%*0%+0 )'() -&0 (' -10()0 / -%01/ :1'+*)*7+' 0&*<+()0-' &' -,0+01*+0 :101 @,0+' )'()6 0+*/</101*+ ()1*+' ')*7 "'0@0+' /+*)0+ :1. KM:1(

 N0@7*0'(6 L++6 * -&0 (' . &*+/*1* 2!!$. <0+' %'+ :1%0 / :10()*+*-)1/+0@' / (%0, ',7&*,* E/1:(-' U+0&'.

O%*& )'() (' )','7&0 +* -,0+*@0&0 /7)1*%/+< :101* 1'0%*+&* /7)1*%/+0; 07&'<*6 :10&' (%'<* '7&0+' +/;*7+< +*1* 0 0()+< 1'0%*+&* 0-',0&(-0; 07&'<* PAPPA 0 1'' ;CG6 )','7&', '<* (' :1@&'+&/&' 100- * +*()*+*- D+%< (0+1,* /*-)/*7+& )1/+F0. P1',* 1'/7)*)/ -,0+01*+< :101* )1/+0@' (' (%1()*%*&/ / (-/:0+/ (+0(-0,6 /,&'1'+0, 0 %0(-0, 100-,.

P&'7* 100-* +*0 (70&''F'= 0 (-/:0+' ( %0(-0, 100-, 10) F' (' 8! (%' &'@' (

)10(,0&, 2 T26 0 (-/:0+' (* (1'+&0, 100-, 10) F' (' 5 (%' &'@' ( T2 0 0(-/:0+' ( +0(-0, 100-, 10) F' (' 5 (%' &'@' ( T2.

O)/* (' (%0, )1/+0@*,* -&' (:**&/ / (-/:0+/ ( %0(-0, 100-, 100- =5! (*%&')/&'-*10)0:0*@0&* 0:(0&* -10+(-0; 1'(0@* CVS 070 :/+-@0&* :7+' %' *,+0@'+)'* 01'0%*+&' ')*7+< -*10)0:*6 +(+ 1&* 0 0<7'* -1,(,* ''.

K*10)0:0*@0&* (' (*%&')/&' 0 (%0, )1/+0@*,* 0 (-/:0+' ( /,&'1'+0, 100-, 100--,0+01*+< :101* 0,'/ =5 0 =.!!! - -&0; &' +'-0 /7)1*%/+0; 07&'<*

 :0)0%*+= *:7*0&* +(+' -()06 1+),*-(07*1+0 -/) 70@* 856 +'<*)0%*+ *%*7 / -10%/7&0

:7'1(-< :1)-* -1 /@)/( %'+(/( 070 :0)0%+* )10-/(:0*7+* 1'</1<0)*@0&*.

)arti$ti;iza-ia

K*10)0:0*@0&* &' ;1,,(-* *+*70* ',10&*6 +(+ ')/(*6 -&/ &' ,</F' /0+0)0+*-+ 0+%*0%+< *;%*)* -&0, (' 0&/ ()*+0@' ')/(*. P1')1*<' -&0,* (' ,' 0)0

,*)'10&*7 :<*+ * -*10)0:0*@0&/ (/ 0:(0&*-10+(-0; 1'(0@* . 4. )&'*+ )1/+F' 0*,+0@'+)'* #. 8. )&'*+ )1/+F'.

 N*&+**&+0&0 100@0 %0; *;%*)* (/ (:+)*+0 :**& /(70&' *;%*)*6 0&0 (' 100- :1@&'+&/&' +* -*- - 0:(0&' -10+(-0; 1'(0@*6 )*- 0 -*,+0@'+)''. O7&'* ',10&* +(+ ')/(*- %0; *;%*)* (' :1*-)0+ %0' +' %0*. K*,+0@'+)'' (' *)+ 0 :7%' %' ,</1'0%*)0 1*0+* AP 0 '+0,* *@')07-70+'()'1*'-&0 ,</ /:/F0%*)0 +* 1*(@&':' +'/1*7+' @0&'%06

 :10&' (%'<* -1*7&'+0@' (:0+* 00*.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 14/17

14

In"i+a-ie za in,azi,n3 ;renata!n3 "ia/n$sti+3:

• ()*1() ,*&-' 356 +(+ 3$ <0+*

• ()*1() @* 42 45 <0+*

• -1,(,:*)0&' / 0)'7&0

• *+1,*7+()0 -1,(,* - :1');+ 1'+< &')')* 070 - 10)'7&*

•  :1');+ 1'+* &'@* ( %0'()1/-0, ,*71,*@0&*,*

• *+1,*7+()0 )-10%'+' /7)1*%/-,

•  :0)0%*+ 1'/7)*) -,0+01*+< :101* 0

• 1/<' 0+0-*@0&'.

=. LABORATORIJA 7A 'UMANU ENETI)U

L*1*)10&* * ;/,*+/ <'+')0-/2

  :(&'/&' -*:*@0)')' * -*1*-)'10*@0&/ 0 <'+)0:0*@0&/01-< (:'-)1* +*(7&'+0; 7'()06 * -&* :1*/,0&'%* :10,&'+/ ()*+*1+0; ,')* *01*+0; +* PCR. U :10@*,* (* 01*'+, 1'-%'+@0&, 1''+< +*(7&'+< :1','F*&* ,</F' &' 0 %10)0 :1@&'+/ 100-* * //F' :),()% 070 <'+)0:0*@0&/ -* :()&0 70&'+0-* 0+0-*@0&*.

U :10,&'+0 (/ %'100@01*+0 *+*70)0-0 ,')06 -* ) (/=

:1'+*)*7+* DNK -*1*-)'10*@0&* 1*+* ')'1,0+*@0&* (:7* 0 0+()%* :7* PCR <'+)0:0*@0&* HLA (0()',* ')'-@0&* ,*1-'1* * 1*700)' :)0:%' *-/)+' ,0&'70+' A"L6 *-/)+' 70,7*()+'ALL 0 ;1+0+' ,0&'70+' C"L 7'/-',0&' +'/1,/(-/7*1+' 0()10&' D/@;'++' 0 B'@-'1 )0: <'+)0:0*@0&* 0)*%< (:'-)1* +*(7&'+0; 7&'+&* -1 (*1*+&/ (* L*1*)10&*,*(:'@0&*7001*+0, * ')'-@0&/ 10&')-0; +*(7&'+0; :1','F*&* 070 7'()0 .<'+')'()(.1<.

L*1*)10&* * ;/,*+/ <'+')0-/ %*+0+ &' 1,7&'+* I+)'1+0, *-), U:1*%+< 1*I+()0)/)* * <'+')0- 0+'+&'1()% 0 0)';+7<0&/ 2!!4. <0+'6 * *&'+ (*-,:7','+)*1+0, 7*1*)10&*,* I+()0)/)* /;%*)* 0()1*0%*-/ 0 '-(:'1)+/ &'7*)+() /7*()0 ,7'-/7*1+<'+')0-' -*1*-)'10*@0&' ;/,*+< ,*)'10&*7*.

2 Institut za genetičko inženjerstvo i biotehnologiju!arajevo

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 15/17

15

J'*+ ()1*)'-0; 1*%&+0; :1*%*@* L*1*)10&' * ;/,*+/ <'+')0-/ &' &**+&' -*:*@0)')** ,'0@0+(-/ 0&*<+()0-/ 0 ( )0, / %'06 /(:()*%7&'+ &' 01'-)*+ -+)*-) (* K70+0-0,@'+)1, U+0%'10)')* / S*1*&'%/ 0 "0+0()*1()%, 1*%7&* K*+)+* S*1*&'% / @07&/ &*(+<'0+01*+&* :)1'* * ,'0@0+(-/ 0&*<+()0-/ / K*+)+/ S*1*&'% 0 ''1*@0&0 B0H.

U +*1'+, :'10/6 :1&'-)0 L*1*)10&' * ;/,*+/ <'+')0-/ F' 0)0 /(,&'1'+0 +* *7&/0<1*+&/ +%0; 0+1*()1/-)/1+0; 0 -*1%(-0; -*:*@0)')*6 -* (+%' * /-7&/'+&' /0+)'1+*@0+*7+' ,1'+' 0 -,:')0)0%+' -7*1*)0%+' :1&'-)' +* %0(-& 0()1*0%*-& 1*0+0.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 16/17

16

1>. 7A)LJUA) 

J'*+ +*&%'F0; :17',* &' -*- * (*,' :*@0&'+)' )*- 0 * +&0;%/ 0)'7& -*- :()*%0)00&*<+/. D0&*<+* &' +*0,' :1'/%&') * ()/:+ 70&''+&'.

V*+ &' 0()*-+/)0 -*- (' 1*+, 0 :1*%+, 0&*<+, )' 70&''+&', ,' F0

+*)+< (,*+&'+&* 0+%*70+()0 0 (,1)+()0. R*+* 0&*<+()0-* &' -7&/ /(:&';*WT*-'1 + ) &' &*- %*+ * %/ 7*() &' * )';+7<0&* -&* &' +':;+* *0()1*0%*+&* /' /' ()/:+* / ) -1*F', %1','+/ &'1 (%*-* :1*%%1','+* 0&*<+*,' * (:*(0 +'0&0 0%)6 )*- * ,1*, :(&'%*)0 +*&(*%1','+0&/ )';+7<0&/. I:*-)1'*, 0)0 (%&'(+0 0 0+&'+0@' * +' :()&0 +0)0 &'+* 7*1*)10&* +* (%0&')/ -&* -&* ,'0'+)00@01*)0 (%' +*(7&'+' 7'()0 &'1 &' ) %'70-* (-/:0+* 0 +0(/ (%' )*- '() :10(/)+'.

J'*+ *-7&/*-* (%*-*- )1'* * /' 0 )*& * &' :1' *'-%*)+' 7*1*)10&(-'*:*1*)/1'6 +':;+ 0 '/-%*+ 0 ()1/+ (7&' -&' F' %0)0 7*1*)10&(-* 0()1*0%*+&*.

7/24/2019 Dijagnostika nasljednih oboljenja

http://slidepdf.com/reader/full/dijagnostika-nasljednih-oboljenja 17/17

17

11. LITERATURA:

. R*@0+*7+* 0&*<+()0-* +*(7&'+0; 0 :101'+0; 7'()0 I% B*10F6A+* S)*%7&'+0FR/-*%0+*

2. L0,(-' 7'()0 +*-/:7&*+&* X S/%1','+* 0&*<+()0-* 0 +%' ,</F+()070&''+&*K('+0&* /,0F6 I% B*10F6 "01*+ "1(0F6 "07&'+-* "*1*0+

3. ./-@)/7*.*U+0%'10)')(- -70+0-0 @'+)*1 T/7*4. .;.0+) S%&')(-* 1*%()%'+* 1<*+0*@0&*

5. .-@/(.*  K70+0-0 @'+)*1 /+0%'10)')* / S*1*&'%/#. .0+<'.* I+()0)/) * <'+')0- 0+'+&'1()% 0 0)';+7<0&/S*1*&'%$. .-@*<1'.;1  K70+0-0 7+0-0 @'+)*1 Z*<1'8. .,'0@0+(-*+*-7**.;1 9. .'+07-')+/10&*.;1 !. .<'+')0-*.07.:,./+0<.;1