title: Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.
abstract: Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG)mTn-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Onay
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: O
authors.initials: O
authors.lastname: Topaloglu
authors.forename: N
authors.initials: N
authors.lastname: Gokgoz
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
authors.forename: M Y
authors.initials: MY
authors.lastname: Apak
authors.forename: Y
authors.initials: Y
authors.lastname: Camcioglu
authors.forename: H
authors.initials: H
authors.lastname: Cokugras
authors.forename: N
authors.initials: N
authors.lastname: Akcakaya
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: B
authors.initials: B
authors.lastname: Kirdar
mesh_terms: D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D020180:Heteroduplex Analysis; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D014421:Turkey
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator