ࡱ> Root Entrypdp` @#FileHeader]DocInfoQBodyText p`p`!"#$%&'()*+,-./01Root Entry=`@#FileHeader]DocInfoQBodyText @=`@=` HwpSummaryInformation.H-PrvImage PrvTextDocOptions =`=`Scripts =`=`JScriptVersion dDefaultJScripta_LinkDoce  !"#$%&'()*+,-./0123456789:;<=>?@ABCDEFGIJKLMNOPRSTUVWXYZ[\^_`bcfghijklmopqrstuvwxyz{|}~Diagnosis of human genetic mutations based on DNA microarray technology Hyun Gyu Park Department of Chemical & Biomolecular Engineering, KAIST, Korea TEL: +82-42-869-3932, FAX: +82-42-869-3910 Abstract In this presentation, we will discuss several recent achievements developed in my laboratory for microarray-based diagnosis of human genetic mutations including HNF-1 and BRCA1 mutations. To determine the presence of the genetic mutations in a human sample, we prepared allele-specific oligonucleotide chips from selected mutation sites and generated target probes using a two-step method for Cy-3 DNA samples1) or in vitro transcription of promoter-tagged PCR products for Cy-3 RNA samples2). Hybridization of the target probes to the chips successfully identified all of the genotypes for the tested sites. For more reliable diagnosis, we also employed single base extension (SBE) reaction and zip-code microarray technique for our strategy. Particularly we developed an efficient PNA zip-code microarrayGIF89aɻxxxkkk]]]PPPCCC555((( d`LH00`Hذ̘`H0|pdXL@`0H `H0`dHL`H0xp`XH@0d LȰ``HH00dLؘȀ`H0xp`XH@d0L `H0d`LH`H0|pdXL@0`$H`dHL00`HذȘdL0xp`XH@0` HdH0ȳ``HHdL0xp`XH@`0H Ը̰ĠऀؘpȈXxHp@h@d8`8X0xT0pH dxddxd`d`p`|``x`p``x`!, H*\ȰÇ#JHŋ3jȱǏ CIɓ(S\ɲ˗0cʜI͛8sɳϟ@ JѣH*]ʴӧPJJիXjʵׯ`ÊKٳhӪ]˶۷pʝ? ~ԻoAK`P`w3ƫwrdȑ/NˎSYeω1l<9uE}2Ơc}tܲLȓe=g#g;Mسkνg`ҊG>wO~eo{'cgs=pm&c=^چ~HzaH o pn6cZ!W[[̽ b@6ߊPF)TViSV%DA$d䗖}=ĤqC|iM%#}Hy'KgH61Iك>gc=fx8/XTƐa9_ByOb aB/z讑و:9!ug2bUAB;zG>K9JJc +dniǢg"4i2 lQiڳq' ,ق|﫺밡C,q%Qz nV+7o.QpFn͌0˰<|Lqƨ_j3KGo2~W5RLQ7X(VYpsR1hna.'Y|C7)'Tj{cw `hxkl'H?LU33.F=fL+n&Ow .v K۰r;.8hhmwg/BFHܜŀw%Z#+a=E0I5l#mao7v$ ).T = ]DK.^aK!7I;%qa0j-_k jX+\c.s9ŵ,`c5 e"f æ;[W>xq+] ׸vM-pmnS"-F`|D!l)[6%Cr 6!l%)9`@;%eSžgÓ,&s[LsHK(oMCeؔy3B9`LGiPY k{j! HWP Document File!uPDO pKmXXXIkGBQ2\Qd&M*Z:3G1>$(Ygz]2V!3N lٹӹ'BkR2D49jcd`߈uccessfully identified all of the genotypes for the tested sites. For more reliable diagnosis, we also employed single base extension (SBE) reaction and zip-code microarray technique for our strategy. 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To determine the presence of the genetic mutations in a human sample, we prepared allele-specific oligonucleotide chips from selected mutation sites and generated target probes using a two-step method for Cy-3 DNA samples1) or in vitro transcription of promoter-tagged PCR products for Cy-3 RNA samples2). Hybridization of the target probes to the chips successfully identified all of the genotypes for the tested sites. For more reliable diagnosis, we also employed single base extension (SBE) reaction and zip-code microarray technique for our strategy. Particularly we developed an efficient PNA zip-code microarray fGIF89aɻxxxkkk]]]PPPCCC555((( d`LH00`Hذ̘`H0|pdXL@`0H `H0`dHL`H0xp`XH@0d LȰ``HH00dLؘȀ`H0xp`XH@d0L `H0d`LH`H0|pdXL@0`$H`dHL00`HذȘdL0xp`XH@0` HdH0ȳ``HHdL0xp`XH@`0H Ը̰ĠऀؘpȈXxHp@h@d8`8X0xT0pH dxddxd`d`p`|``x`p``x`!, H*\ȰÇ#JHŋ3jȱǏ CIɓ(S\ɲ˗0cʜI͛8sɳϟ@ JѣH*]ʴӧPJJիXjʵׯ`ÊKٳhӪ]˶۷pʝ? ~ԻoAK`P`w3ƫwrdȑ/NˎSYeω1l<9uE}2Ơc}tܲLȓe=g#g;Mسkνg`ҊG>wO~eo{'cgs=pm&c=^چ~HzaH o pn6cZ!W[[̽ b@6ߊPF)TViSV%DA$d䗖}=ĤqC|iM%#}Hy'KgH61Iك>gc=fx8/XTƐa9yz/!ahr&䛩Һ2ZNיB{n&[U &W9Ye#[N9j'(*[fʼn~ckצ+h0FlVJ Og|;J{'|2G{L,YLq{nr\g,Mﺫ%˗^̔ Wԥ7r^.>l"KݶftE+λދHa>v"&]kvw>)L]3>ݷܡ84= F6ؼWzjnN2J['zIHC# nlⴇO'ً8׻{.C=n@p3|:?8 H޲Tn/f MJ+_T>K{va NggVC$7SF͟}یT-3D^0O:r"8IQswNkž#5az̴)EfJI%Jer9(iPM-61Va$3y"x#PTιN#lgSܝ@5c#s@DkP1z(caS3 yK!>!<+UaЬKͳ-gmm ٻ8=w\Ru)~Ze_X=ҿG%M`{\GGecQ?'Vo%SYKzCp1K^Yx]QƄJq r'{6Ư Vή'񺧄kgzK8%G5>VZJ(aVO%N'm$V'I0M>Dp`tKIpB?#%;9%q_"55LP)]╉)1q- Z5LMCg򖸌m`0lz"\y{7\ /ZεlGlksRh vx(ix v0m2#؉,Md ϖM}KO[yL絷{ QlMCcٔy3LE`GQҿ=>U! HWP Document File!uPDO pKmXXXIkGBQ2\Qd&M*Z:3G1>$(Ygz]2V!3N lٹӹ'BkR2D49jcd`߈cessfully identified all of the genotypes for the tested sites. For more reliable diagnosis, we also employed single base extension (SBE) reaction and zip-code microarray technique for our strategy. Particularly we developed an efficient PNA zip-code microarrWMh\U>Lh,쳠'I&i$m$B*d&4ɌImq67bZBBp*Ӆ,W](}ޛM ޽{9ι2,"I}L@I'eo~j;J{HeN "%",ʚ,oɣKY|/>~Q@&3pԐ\UṊ:ZbR@>JT9f8YcxcSd="bO\ijIw8KDh߅T:Mș%(|Km\zt \Տ*&d1|;9CTt,G]S8S6@ UL!r~$Fv$Uٺoq ]x瞌'eE}P2 ٶ=C 4]W<XG@ wŝs(hUA2I}jkX)҃/YG9r"ь6\Ic.4-1ιNEHgS_C$:W5߸nH*@->8r\a) dOW>= ̾T[U#>#"q9iI5. 1dԲU߆ja 5셆cμjA߈f,ّ-D_bgAcƒKCSk0Caݰ<p"AK5DyEHF(A!fq%6ext#"J7P|C׃>mX*%|:..Pfen>1nų1l2)_պoߢ9d;[qd7#<{3y-e7[.x&i=v1f\fF\qTs60ԋ>< d}svfBty#oEG mYO=3^Է=-\sy-xې)䢆m e*W2ȠU"(,4a!iE!