title: [Mutation frequencies of the thrombophilic state genes in Uzbekistan].
abstract: The prevalence of mutations of the genes of the coagulation factor V (G1691A), the coagulation factor II (G20210A), and of MTHFR (C677T) was investigated in patients with deep vein thrombosis of lower extremities (DVT) and healthy people of Uzbek nationality. The following prevalence of the mutant alleles among patients in Uzbekistan was revealed: for factor V Leiden--12,9%, prothrombin--4%, MTHFR--47,8%. The mutant allele of C677T gene (47,8%) was highly expressed in patients with DVT. It was revealed that the mutation of MTHFR gene was more common among female patients with DVT than in male patients with DVT. In Uzbek population the mutation G20210A of the prothrombin gene was detected rarely than the mutations of MTHFR and factor Leiden. The penetrance and the role of these mutations in the development of the thrombosis of deep veins were studied.
authors.forename: Sh E
authors.initials: ShE
authors.lastname: Sadikova
authors.forename: Kh Ia
authors.initials: KhIa
authors.lastname: Karimov
authors.forename: Sh M
authors.initials: ShM
authors.lastname: Muminov
authors.forename: R P
authors.initials: RP
authors.lastname: Tulakov
authors.forename: K T
authors.initials: KT
authors.lastname: Boboev
mesh_terms: D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012737:Sex Factors; D014610:Uzbekistan; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)