Introduction: The thrombophilia is one of the most important cause of maternal thromboembolism, which is associated with recurrent pregnancy loss (RPL) Risk. The aim of present study was to investigate prevalence of prothrombin (FII, G20210A) and factor V Leiden (FVL, G1691A) genes mutation, as two important cause of thrombophilia, in Iranian Azeri women with RPL.
Materials and methods: The subjects in this retrospective study consisted of 100 women (20-40 years old) with RPL recruited from Iranian Azeri population in East Azerbaijan province, Tabriz in Iran. The genomic DNA was extracted from 5 ml peripheral blood samples using the proteinase K method. The Allele and genotype of FII (G20210A) and FVL (G1691A) mutations were assessed using restriction fragment length polymorphism (RFLP) polymerase chain reaction (PCR) method.
Results: Our results showed that the frequency of normal homozygous, heterozygous and mutation homozygous for the FII G20210A and FVL G1691A mutations were equally distributed among Iranian Azeri women with RPL. The genotype distribution in RPL patients was, 99% AA, 1% AG, and 0% GG in both of the mutations.
Conclusion: In general, our study showed that the prevalence of FVL (G1691A) and FII (G20210A) mutations is low in the Iranian Azeri women with RPL. However, these mutations can be the important reasons for RPL, and more studies with large sample size are required to determine the exact frequency of FVL (G1691A) and FII (G20210A) mutations in Iranian Azeri women with RPL.