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Vol. 16, Art. 62 (pp. 682-689)    |    2015       

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Frequencies of Factor V (A506G), prothrombin (G20210A) and MTHFR (C677T and A1298S) polymorphisms in healthy blood donors in SAint-Petersburg

Koloskov A.V.,1,2 Philippova O.I.,1,2 Lyshchev A.A.,3 Baturina O.A.,1,3 Vasileva M.Yu.,1.2 Gulyaikhina D.E.,1,2 Nikitin M.M.,4 Bogdanov K.V.4

1North-Western State Medical University named after I.I. Mechnikov, St.Petersburg, Russia, e-mail: Andrei.Koloskov@szgmu.ru
2City Hospital № 26, St.Petersburg, Russia, e-mail: milidoctor@mail.ru
3«MedLabSPb» Ltd., St.Petersburg, Russia, e-mail: laa0209@mai.ru
4«Lumex-Marketing» Ltd., St.Petersburg, Russia, e-mail: nikitinmm@lumex.ru

Brief summary

Studied the incidence of genetic polymorphisms associated with thrombophilia in the population of Saint-Petersburg residents, Caucasian. The study included 261 healthy blood donors (150 males (57.5%) and 111 females (42.5%)). The average age of healthy donors was 35.3 ± 0.7 years (range 18 to 68 years). Distribution heterozygous mutation A506G factor V and G20210A prothrombin is found in St. Petersburg residents with a frequency of 3.8 % and 2.7 %, respectively. Performance of donor functions asymptomatic carriers of heterozygous mutations A506G factor V and G20210A prothrombin is not associated with the risk of thrombotic events. Detection of heterozygous mutations A506G factor V and G20210A prothrombin is not an absolute predictor of thrombotic events and can’t be equivalent to the concept of "hereditary thrombophilia." C677T mutation MTHFR occurs with a frequency of 42.5 % for the heterozygous form and with a frequency of 3.1 % for the homozygous form. Carriage A1298C mutation MTHFR occurs with a frequency of 36.4 % and 17.2 % for the heterozygous and homozygous form, respectively. Polymorphisms C677T and A1298C MTHFR were not predictors of thrombotic events in healthy blood donors. Not found a relationship between the frequency of detection of polymorphisms A506G factor V, G20210A prothrombin, C677T and A1298C MTHFR and blood group AB0.


Key words

factor V gene, prothrombin gene, MTHFR gene, A506G, G20210A, C677T, A1298C, thrombophilia, blood donors, population-based study

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