The study of blood clotting gene polymorphism in thrombophilia

  • A. M. Kalimagambetov Al-Farabi Kazakh National University
  • A. Yu. Abenova Perinatal Prevention Center, Astana
  • N. K. Degemerzanova Perinatal Prevention Center, Astana
  • T. S. Kiseleva Molecular genetics laboratory LLP «Tree Gene», Almaty
  • A. K. Yerdenova Molecular genetics laboratory LLP «Tree Gene», Almaty


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.


1. Genetic passport as a basis of individualized predictive medicine / ed. V.S. Baranova. – SPb.: N-L., 2009. – 528 p. (in Russian)

2. Rosendaal F.R. Risk factors for venous thrombotic disease // Thromb. Haemost. 1999.- Vol. 82. – P. 610-619.

3. Baranov V.S. Genetic basics of predisposition to several factores of multifactorial diseases // Med. gen. – 2004. – Vol. 3. – P. 102-112. (in Russian)

4 Puzyrev V.P. Questions on identification of genes responsible for predisposition to widely distributed human diseases // Mol-biol. tech. in
med. pract. – 2009. – No. 9. – P. 3-15. (in Russian)

5 Online Mendelian Inheritance in Man: database.


7 Clinical laboratory analytics. Vol.1. Basics of clinical laboratory analysis / ed. V.V.Men’shikova. – M.: Agat-Med, 2002. – 860 p. (in Russian)

8 Gibson U.E., Heid C.A., Williams P.M. A novel method for real time quantitative RT-PCR // Genom. Res. -1996. - 6(10). – P. 995-1001.

9 Heid C.A., Stevens J., Livak K.J., Williams P.M. Real time quantitative PCR // Genom. Res. - 1996. - 6 (10). - P. 986-994.

10 Cvetovskaja G.A., Chikova E.D., Lifshic G.I., Koh N.V., Shevela A.I., Voronina E.N., Novikova Ja.V., Mahotina N.E. Geneticheskie faktory
riska trombofilii u zhenshhin reproduktivnogo vozrasta v Zapadno-Sibirskom regione // Medical sciences. – 2010. – No. 10. – Р. 72-79.
How to Cite
KALIMAGAMBETOV, A. M. et al. The study of blood clotting gene polymorphism in thrombophilia. International Journal of Biology and Chemistry, [S.l.], v. 7, n. 2, p. 37-40, dec. 2014. ISSN 2409-370X. Available at: <>. Date accessed: 20 sep. 2020. doi:


gene mutation; polymorphism; thrombophilia; PCR