Chorna L. Allelic polymorphism of folate metabolism and hemostasis genes in reproductive losses in humans

The dissertation is devoted to studying the association of allelic variants of folate metabolism and hemostasis genes with reproductive losses in humans. A molecular genetic analysis of allelic variants of folate metabolism genes and genes involved in regulation of hemostasis functional activity was carried out in women with reproductive losses and in spontaneously aborted embryos. It is established that in the case of accumulation in the female genotype of five variant alleles: MTHFR 677T, MTHFR 1298C, MTR 2756G and MTRR 66G in homo or heterozygous state the risk of having a child with neural tube defects increases by six times, the risk of having a child with cleft lip and/or palate increases in 9-fold, the risk of recurrent pregnancy loss increases by 10 times. The presence in women genotype 66G allele of the gene locus MTRR 66 A/G increases the risk of having a child with Down's syndrome in two times and the risk of recurrent pregnancy loss increases by 1,8 times. The results showed the advisability of genetic testing of allelic variants of folate metabolism genes and genetic markers of thrombophilia (4G/5G 675 of PAI-1 gene and FV 1691A/G (Leiden mutation) in women with recurrent pregnancy loss. The results can be applied in further research of human reproduction losses and for medicogenetic consultation for estimation of reproductive pathology risk in married couples.