Impact of Factor V Leiden (G1691A) Variant in Saudi Women with Gynecological Disorders

Gynecological disorders are defined as a condition which disturbs the female reproductive organs. Recurrent Pregnancy Loss (RPL) is one of gynecological disorder which is ostensibly defined as more than couple of consecutive miscarriages before 20 weeks of gestation. After the abnormalities found in chromosomes, thrombophilia is known to be the one of the major genetic factors that may prone the RPL disease. Factor V Leiden (FVL) mutations are well-known for one of the thrombophilia and eminent for essential clotting factor in coagulation cascade. The aim of this study was to investigate the genetic association of G1691A mutation in FVL gene at RPL in the Saudi women. In this study, 113 women were involved with RPL. Collected blood was stored in an EDTA tube to extract the genomic DNA using kit-based method. Real-Time Polymerase chain reaction was carried out using the probes. The mean age of the involved 113 women were 34.4 +/- 5.79 years and Body Mass Index were established as 30.06 +/- 7.05. In this study, 99.1% of genotypes has confirmed as GG genotypes, heterozygous (GA) was documented in single RPL women (0.09%) and AA was not documented in any women. In conclusion, this study showed only single heterozygous in G1691A mutation in FVL gene. This could be due to the small sample size.