title: [Molecular genetic study of the factor VIII gene in families from Bashkir with hemophilia A].
abstract: The distribution of hemophilia A was studied in Bashkortostan. The factor VIII gene of the blood coagulation system was analyzed in 34 patients with hemophilia A and 48 of their close relatives. Inversion of intron 22 of the factor VIII gene was revealed in nine cases, which comprised 30% of the total sample analyzed. The type II and type III of this mutation occurred at a relatively high frequency, which may be explained by the founder effect and genetic drift. The allelic frequencies of the polymorphic locus HindIII at intron 19 were similar; a substantial allelic heterogeneity of both microsatellite (CA)-repeats at intron 13 and the DXS52 locus were found on normal and mutant X chromosomes. The molecular genetic analysis of (CA)-repeats and the loci HindIII and DXS52 in families with hemophilia A makes it possible to reveal up to 89% of the informative families.
authors.affiliation: Institute of Biochemistry and Genetics, Bashkir Scientific Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russia.
authors.forename: Z M
authors.initials: ZM
authors.lastname: Sultanaeva
authors.forename: T V
authors.initials: TV
authors.lastname: Viktorova
authors.forename: M V
authors.initials: MV
authors.lastname: Aseev
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D001486:Bashkiria; D005169:Factor VIII / Q000235:genetics*; D018703:Founder Effect; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D014960:X Chromosome
chemical_list: D005169:Factor VIII
vernacular_title: Molekuliarno-geneticheskoe izuchenie gena faktora VIII v sem'iakh s gemofilieĭ A iz Bashkirii.