Tatarskyy P. Gene polymorphism of detoxication system enzymes and phrothrombotic factors

Object - molecular basis of genetic susceptibility to ischemic stroke, pregnancy loss and poor response to exogenous gonadotrophin stimulation of superovulation. Goal - study of allelic polymorphism of prothrombotic factors genes: F2, F5, MTHFR, and of detoxiсation enzymes genes: CYP1A1, GSTM1, GSTT1, GSTP1 in patient groups and control groups to determine the role of particular polymorphic variants as factors of genetic susceptibility to ischemic stroke, pregnancy loss and in the formation of poor response to stimulation of superovulation by exogenous gonadotropin. Methods - isolation and purification of DNA, polymerase chain reaction RFLP analysis, sequencing, bioinformatics analysis and statistical data processing. Results and their novelty - A DNA bank of individuals leukocyte DNA with ischemic stroke and loss of pregnancy. Found that SNP in genes MTHFR (C677T) and F2 (G20210A) associated with the development of pathological processes that lead to ischemic stroke. Established that the additive interaction polymorphic variant T677 (gene MTHFR) with polymorphic variants of A20210 (gene F2) and A1691 (gene F5) is a factor of increased risk of ischemic stroke. It is shown that the presence SNP in the gene GSTP1 (A313G) is a factor of genetic predisposition to pregnancy loss during the first trimester, and the presence of allelic variants of the A313 gene is associated with poor response to exogenous gonadotrophin stimulation of superovulation in ART programs. The field is molecular biology.