title: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
abstract: In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. DeltaF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.
authors.affiliation: Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Onay
authors.forename: O
authors.initials: O
authors.lastname: Topaloglu
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: N
authors.initials: N
authors.lastname: Gokgoz
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
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: M
authors.initials: M
authors.lastname: Apak
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: B
authors.initials: B
authors.lastname: Kirdar
mesh_terms: D000225:Adenine; D019943:Amino Acid Substitution / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003596:Cytosine; D016368:Frameshift Mutation; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D007930:Leucine / Q000235:genetics; D008715:Methionine / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D011392:Proline / Q000235:genetics; D017384:Sequence Deletion; D014421:Turkey
chemical_list: C505032:CFTR protein, human; D007532:Isoleucine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D003596:Cytosine; D011392:Proline; D008715:Methionine; D007930:Leucine; D000225:Adenine