Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients

• DOI: 10.1353/hub.2001.0022
• Publication Date: 2007-02-07T02:44:57Z
• Authors: Tuncer Onay; Julian Zielenski; Ozlem Topaloglu; Nalan Gokgoz; Hulya Kayserili; Memnune Yuksel Apak; Yildiz Camcioglu; Haluk Cokugras; Necla Akcakaya; Lap-Chee Tsui; Betul Kirdar
• Keywords: Turkish population

AbstractIdentification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment molecular basis CF Turkey and development strategies prenatal diagnosis genetic counseling. Here, we present an updated report found from extensive screening study entire coding region, including exon-intron boundaries promoter region. Cases which could not be identified were also screened previously defined large alterations (TG)mTn-M470V loci. This revealed a total 27 different accounting almost 60% disease genes population. In this study, haplotypes associated with 17 those unknown mutations. The mutation spectrum its indicated presence major Mediterranean component contemporary