Non-Sendromik Yarlk Dudak/Damakll Olgularda ACOD4 Geni Mutasyon Analizi

Year 2007, Volume: 8 Issue: 1, 31 - 35, 01.04.2007

Mehmet Ali Sözen Marie M Tolarova Richart A Sprıtz

Abstract

Keywords

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Non-Sendromik Yarlk Dudak/Damakll Olgularda ACOD4 Geni Mutasyon Analizi

Abstract

Non-sendromik yank dudak ve/veya damak
(nsYD/D= nsCLIP, MIM 119530) en yaygm bashca dogum
defektlerinden biridir. Bircok aday gen alel iliskilendirme
metodu ile non-sendromik yank dudak/damak
malformasyonunda olasi rol ahp almadigiru test etmek icin
cahsilnusnr. Kromozom yeniden dtizenlemelerine sahip
nadir olgular, ilgilenilen bir hastahk icin aday genleri belirlemede
essiz ipuclan saglayabilir. Son zamanlarda, bu
sekildeki iki cahsma yeni kromozom yeniden diizenlenmeleri
belirlemis ve bu suretle non-sendromik yank dudak/damak
hastaligr icin iki yeni aday gen ortaya cikarrrnsttr:
CLPTMI ve ACOD4. Buna dayali olarak, biz
ACOD4 geninin non-sendromik yank dudak/damak hasta- .
hgindaki potansiyel roltinti belirlemek icin ilgili gende
mutasyon analizi gerceklestirdik. Kuzey Venezuella'dan
toplam 96 hastada ACOD4 geninin kodlayan be~
ekzonunda mutasyon taramasi gcrceklestirdik, Iki hastada
ACOD4 geninin 4. ekzonunda bir sessiz mutasyon,
Ala241 Ala, belirledik ve baska herhangi bir vary ant
bulamadik. Sonuc olarak, bu bulgular ACOD4 geninin
nsYD/D malformasyonu gelisiminde yaygm bir genetik
risk faktoru oldugunu, en azindan bu arastirmada cahsilan
giiney Amerika' h (Venezue11 a) populasyonda,
desteklememektedir

Keywords

ACOD4 geni, perisentrik inversiyon, yarık dudak, yarık damak, mutasyon analizi

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