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

Öz

Anahtar Kelimeler

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

Öz

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

Anahtar Kelimeler

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

Kaynakça

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