title: [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].
abstract: A sample of 165 patients who were inhabitants of Russia was screened for seven CFTR gene mutations, and analysis of polymorphism frequency at two marker loci (KM19 and VNTR in intron 6 of the CFTR gene) was performed in normal and mutant chromosomes. The frequencies of mutations in 330 mutant chromosomes were distributed as follows: delta F508, 57.5%; G542X, 1.07%; and R33AW, 0.45%. Mutations G551D, R553X, R347P, and 1154insTC were not found. Alleles and haplotypes of KM19 and VNTR loci in intron 6 of the CFTR gene were characterized by a marked linkage disequilibrium with the CFTR gene. Haplotype 2-6 showed an absolute linkage disequilibrium with the delta F508 mutation.
authors.forename: N V
authors.initials: NV
authors.lastname: Petrova
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: N I
authors.initials: NI
authors.lastname: Kapranov
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005819:Genetic Markers; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D012426:Russia
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator