The study of blood clotting gene polymorphism in thrombophilia

A. M. Kalimagambetov, A. Yu. Abenova, N. K. Degemerzanova, T. S. Kiseleva, A. K. Yerdenova

Abstract


The study of polymorphic variants of 11 genes of blood coagulation in women with suspected thrombophilic states revealed that the frequency of the homozygous form for the mutant allele of studied genes varies in the range of 0-50%. The highest frequency of homozygous genotype revealed in mutant allele 4G gene antagonist of tissue plasminogen activator SERPINE1 (PAI-1) – 50.0%, the frequency of the homozygous genotype for the mutant G allele of gene methionine synthase reductase MTRR was 31.82%, the frequency of the homozygous genotype for the mutant T allele of the gene of methylenetetrahydrofolate reductase MTHFR was 13,64%. The frequency of the 4G, G, and T mutant alleles according the given genes were 0.71, 0.56, 0.37, respectively. Heterozygous form for the mutant alleles was observed in all genes with the frequency from 2.27% to 43.18%. Homozygous form for mutation in F2, F5, F7 genes was not identified. The association of two or more homozygous genotypes for the mutant alleles of blood clotting in thrombophilia was established in 12 (27.27%) of women.

Keywords


gene mutation; polymorphism; thrombophilia; PCR

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