Strip Assay Metodu Kullanılarak “Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)” Geni Mutasyonlarının Analizi,

Yıl 2009, Cilt: 23 Sayı: 2, 47 - 51, 01.08.2009

A. Ülgenalp

Öz

Anahtar Kelimeler

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Strip Assay Metodu Kullanılarak “Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)” Geni Mutasyonlarının Analizi,

Öz

Amaç: Türk Populasyonu’ndaki CFTR gen mutasyonlarının bildirilmesi. Gereç ve yöntem: Çalışma da; 36 CFTR geni mutasyonunu tek bir çalışmada analiz eden Strip Assay Metodu ile, Kistik Fibrozis (KF)’li veya Konjenital olarak bilateral vas deferens aplazisi (CBAVD) bulunan toplam 254 örnek analiz edildi. Bulgular: Çalışılan 254 DNA örneğinde on farklı mutasyon saptandı. delF508 sıklığı %4, mutasyonlar açısından genel olarak bilgi vericilik oranı % 6,8 olarak bulundu. Sonuç: CFTR geni mutasyonlarının rutin saptanması açısından strip assay tekniği hızlı ve bilgi verici bulundu

Anahtar Kelimeler

Kistik fibroz, CFTR, Strip assay

Kaynakça

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