Investigating factor V (G1691A), prothrombin (G20210A) and methylenetetrahydrofolate reductase (C677T) gene polymorphisms in recurrent pregnancy loss

SUMMARYINVESTIGATING FACTOR V (G1691A), PROTHROMBIN (G20210A) ANDMETHYLENETETRAHYDROFOLATE REDUCTASE (C677T) GENEPOLYMORPHISMS IN RECURRENT PREGNANCY LOSSIn 75% of women trying to be pregnant, early pregnancy loss occurs.Habitual abortion is the termination of two or more consecutive pregnancies before20th gestational week.Various etiologic factors are responsible for recurrent pregnancy loss. In theperformed studies these reasons are reported to be, 7% chromosomal abnormalities,10% anatomic problems, 15% hormonal irregularities, 6% unclear reasons and 55-62% coagulation protein/platelet problems, approximately. The importance ofgenetic defects causing defficiency in the coagulation system are better understoodrecently. Among them the most frequently related ones are some of the mutationstake place in the Factor V, Prothrombin and the MTHFR genes.In our study we objected to investigate the existence of the FV Leiden(G1691A), Prothrombin (G20210A) and MTHFR (C677T) gene mutations in 110women with recurrent pregnancy loss and in 30 women with no pregnancy loss andhaving healthy children. Evaluation of all the cases was begun by taking anamnesisand filling patient approval form. Mutation screening was perfomed by PCR-RFLPmethod using Hind III and Hinf I restriction enzymes for the blood samples ofwhich DNAs were isolated.FV Leiden (G1691A) mutation was detected to be 13.6 % in the case and6.7% in the control group, Prothrombin (G20210A) mutation was detected to be6.4% in the case and 6.7% in the control group, MTHFR (C677T) mutation wasdetected to be 55.5% in the case and 53.3% in the control group. No significantdifferences were detected between the case and the control group according to themutation frequencies.It is thought that the risk of pregnancy loss is related to the combinedaugmentation of the thrombophilic mutations rather than a specific mutation.Probably, investigating prevalence of more thrombophilic mutations in women withhabitual abortion will be more significant.Keywords: Habitual abortion, FV Leiden, Prothrombin, MTHFR.