DETECTION OF PROTHROMBIN GENE POLYMORPHISM AMONG SUDANESE WOMEN WITH RECURRENT SPONTANEOUS ABORTION

Background: Recurrent spontaneous abortion (RSA) has traditionally been defined by two or more consecutive pregnancy losses before 20 weeks’ gestation. RSA has been estimated to occur in approximately 1% of all couples. The World Health Organization (WHO) defines it as expulsion or extraction of an embryo or fetus weighting 500 g or less. Methods: This was a descriptive analytical case-control hospital-based study conducted at the research laboratory of the national center of neurological sciences (NCNS), Khartoum, Sudan during the period April to September, 2021. The study aimed to detect prothrombin gene polymorphisms among Sudanese women with recurrent spontaneous abortion. Women with more than three recurrent abortions were included in this study as cases and those healthy women with no history of abortion at reproductive age were included as controls. From each subjects 3 ml of venous blood was collected in sterile containers with Ethylene Diamine Tetra-acetic Acid (EDTA) DNA was isolated from venous blood samples by the standard phenol chloroform extraction method. The factor II gene was amplified using conventional PCR. PCR products were sent for sequencing to Macro gene Europe Laboratory. Results: In the present study 345bp of factor II gene was detected with gel electrophoresis after PCR. The PCR result shows that about 41 of cases were positive and only 3 were negative. For the control group the PCR result revealed that 36 were negative and 14 were positive. When compared between case and control there was great statistically significant (P=0.001, Chi= 40.962) The sequencing results were analyzed using different bioinformatics soft-wares and tools. When the cases were compared with the normal reference one single Base Exchange was found G to A (G20210A). While when the controls were compared with normal reference, no any single base exchange was found among the all control groups, the mutation was confirmed by the Mutation taster program. Conclusion: The result of Prothrombin gene mutation showed (P=0.001) significant variations among women with RSA case group (93.2%) compared to controls group (28.0%) and might increase risk for recurrent spontaneous abortion development. The sequencing results analysis confirmed the present of G to A (G20210A) mutation among Sudanese women with recurrent spontaneous abortion.