title: Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
abstract: We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 -3T > C and 3849 +5G > A), and one deletion (CFTRdele17b,18). The data showed that the Turkish population has the highest genetic heterogeneity at the CFTR locus reported so far. The results of this thorough molecular analysis at the CFTR locus of a population not of European descent shows that CF is not uncommon in all such populations. The large number of mutations present, as well as the high heterogeneity in haplotypes associated with the mutations suggests that most of the mutations have persisted for a long time in the population. Consistently, the carrier frequency is assessed to be high, indicating that the disease in the population is ancient.
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Bebek 80815 Istanbul, Turkey.
authors.forename: Mehmet Okyay
authors.initials: MO
authors.lastname: Kilinç
authors.forename: Vasiliki Ninidu
authors.initials: VN
authors.lastname: Ninis
authors.forename: Elif
authors.initials: E
authors.lastname: Dağli
authors.forename: Mübeccel
authors.initials: M
authors.lastname: Demirkol
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Arikan
authors.forename: Ozgür
authors.initials: O
authors.lastname: Coğulu
authors.forename: Gülden
authors.initials: G
authors.lastname: Hüner
authors.forename: Fazilet
authors.initials: F
authors.lastname: Karakoç
authors.forename: Aslihan
authors.initials: A
authors.lastname: Tolun
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D018740:Genetic Heterogeneity; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D014421:Turkey
chemical_list: D022821:RNA Splice Sites