title: [Molecular-genetic analysis of VNTR polymorphism in alleles of the phenylalanine hydroxylase gene in inhabitants of the Volga-Urals region].
abstract: Molecular genetic analysis of the VNTR alleles at the phenylalanine hydroxylase (PAH) gene was carried out in seven Volga-Ural ethnic groups (Bashkirs, Tatars, Chuvashes, Maris, Mordovians, Udmurts, and Komis). The PCR fragments revealed included alleles of 380, 440, 470, 500, 530, 560, and 650 bp, containing 3, 5, 6, 7, 8, 9, and 12 repeat copies, respectively. Substantial heterogeneity of the populations in respect to the distribution and frequency of the VNTR alleles and genotypes was demonstrated. The indices of observed and theoretical heterozygosity of the PAH VNTR alleles were calculated. The mean heterozygosity index was 70.02%. This high index value along with the established differentiation of the populations in respect to the frequency distribution of the VNTR alleles and PAH genotypes permitted the conclusion that the given polymorphic locus can serve as a highly informative marker for examination of the genetic structure of the Volga-Ural populations.
authors.affiliation: Institute of Biochemistry and Genetics, Russian Academy of Sciences, Ufa, Bashkortostan.
authors.forename: V L
authors.initials: VL
authors.lastname: Akhmetova
authors.forename: T V
authors.initials: TV
authors.lastname: Viktorova
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000483:Alleles; D005006:Ethnicity / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D018598:Minisatellite Repeats; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012426:Russia
chemical_list: D010651:Phenylalanine Hydroxylase