Association between G1691A factor V Leiden mutation and idiopathic RPL in the Iranian population of Yazd province

Background: Factor V Leiden G1691A gene mutation is an important cause of thrombophilia, the condition is related to recurrent pregnancy loss (RPL). RPL is defined as two or more consecutive miscarriage before 20 wk of gestation, and can be caused by genetic factors including parental chromosomal abnormalities and thrombophilia as well as environmental factors such as uterine anomalies.Objective: The present paper aims to investigate the association of Factor V Leiden mutation in women suffered from RPL and women without history of abortion and at least 1 term pregnancy as the control group in Yazd province of Iran.Materials and Methods: Genomic DNA was extracted from peripheral blood of 370 patient with using QIAamp DNA Blood Mini Kit (Qiagen). We studied 370 cases and 160 controls to investigate the potential association between G1691A and RPL. In this study, samples were collected between 2015 and 2019 in Yazd Genome Genetics Laboratory.Results: The frequencies of Factor V Leiden G1691A mutation (heterozygote, normal homozygote and mutant homozygote) were 4.4%, 95.4% and 0.3% (p<0.05) in cases, respectively.Conclusion: The results indicated a significant higher frequency of Factor V leiden G1691A in women with RPL in comparison with controls. Accordingly, the G1691 could be used as a genetic marker for early diagnosis of RPL.

Keywords:

RPL , Factor V leiden , G1691A , FVL