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

Year 2009, Volume: 23 Issue: 2, 47 - 51, 01.08.2009

A. Ülgenalp

Abstract

Keywords

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

Abstract

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

Keywords

Kistik fibroz, CFTR, Strip assay

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