Title: Thrombophilia Gene Mutations in Relation to Recurrent Miscarriage
Authors: Dina, Medhat Shalaby, Tawfik, Abdel Salam Tawfik, Tarek, Abdel Zaher Karkour, Magdy Mamdouh Elbordiny, Zaid ,Samy Abou Zaid
DOI: http://dx.doi.org/10.18535/jmscr/v4i4.24
Abstract
The present study was undertaken to investigate the prevalence of thrombophilia- associated gene mutations (factor V Leiden,prothrombin gene G20210A and methylene-tetrahydrofolate reductase MTHFR C677T) in relation to recurrent miscarriage. Two hundred pregnant women divided into two groups were included in the study. Group I included 100 women with history of ≥ 3 unexplained consecutive pregnancy losses and group II included 100 age-matched controls with no history of recurrent miscarriage. Blood samples were collected from all pregnant women enrolled in the study for DNA extraction and genotype analysis based on polymerase chain reaction and reverse hybridization. Factor V Leiden and prothrombin gene mutations did not differ significantly between groups, whereas, MTHFR C677T mutations and combined thrombophilias (Factor V Leiden and MTHFR C667T) were significantly increased in group I compared to controls. Moreover, the total prevalence of gene mutations was significantly increased in group I (61%) compared to controls (21%). Homozygosity and heterozygosity did not differ significantly between groups , however , in group I, heterozygotes were significantly increased compared to homozygotes for each of the three gene mutations studied.
Keywords: Recurrent miscarriage, thrombophilia, factor V Leiden, prothrombin gene G20210A, methylene- tetrahydrofolate reductase.
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