title: Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population.
abstract: Three common CFTR polymorphisms, 5T, M470V and R75Q, have been shown to be relatively frequent in Serbian patients with monosymptomatic CF disorders. Since there is a variation in distribution of common polymorphisms among different populations, it was important to compare their frequencies in patients with the frequencies in healthy population in order to assess the possible role of these polymorphisms in the monosymptomatic CF disorders. Samples obtained from 100 healthy Serbian individuals were analyzed for the presence of CFTR 5T, M470V and R75Q variants by PSM, RFLP and DGGE methods, respectively. Allele 5T was present in two individuals, giving the allelic frequency of 1% (2/200 alleles). The frequency obtained for allele M470 was 45% (90/200 alleles), while V470 allele was present with the frequency of 55% (110/200 alleles). Polymorphism R75Q was present in two individuals, with allelic frequency of 1% (2/200 alleles). Our study has shown that the frequencies of two common polymorphisms, 5T and M470V, differ significantly in Serbian population in comparison with other South European populations. Since it appears that Serbian population has a specific distribution of studied CFTR gene variants, it would also be interesting to analyze other common variants of this gene in our population. Such data can also be potentially useful as anthropogenetic markers in population studies.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro.
authors.forename: A
authors.initials: A
authors.lastname: Nikolic
authors.forename: A
authors.initials: A
authors.lastname: Divac
authors.forename: M
authors.initials: M
authors.lastname: Stankovic
authors.forename: J
authors.initials: J
authors.lastname: Dinic
authors.forename: B
authors.initials: B
authors.lastname: Tomic
authors.forename: M
authors.initials: M
authors.lastname: Ljujic
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D044382:Population Groups; D015022:Yugoslavia
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator