Detection of Factor V G1691A, Prothrombin G20210A and Methylene tetra hydrofolate reductase C677T Gene mutations among Sudanese Women with Recurrent Spontaneous Abortion

Abstract

The current study is a prospective analytical case control study designed to investigate the relationship between Factor V Leiden G1691A, methyleneterhydrofolate reductase (MTHFR) C677T and to the prothrombin G20210A mutation variant and adverse pregnancy outcomes. The study included hundred Sudanese women who experienced three or more of the adverse pregnancy loss as case group during their reproductive in the Omdurman Maternity Hospital (Sudan) these compared with ninety four control group healthy women with at least more than two normal pregnancies and without any history of adverse pregnancy outcome or recurrent miscarriages during the period from July 2012 to June 2014. The study group data collected using structure questionnaire which was used to collect information about age, parity, medical and obstetric history, smoking, family medical and obstetric history, residency and relative marriage. Blood samples were collected from participants and total genomic DNA was isolated from blood leukocytes and the frequency of these gene mutations in the patients and controls were determined using PCR-restriction fragment length polymorphism then followed by Blood group, PT and PTT. Results showed: The mutation was detected in 8 out of 100 cases (8.0%) and in 6 out of 94 controls (6.4%) (P- Value > 0.05). In study subjects, the general mutation prevalence of the Prothrombin gene was 3% among cases with (P- Value > 0.05). And there was no any mutant gene detected among control group. The frequency of Heterozygous A/C MTHFR gene was 3.0% in cases with (P- Value > 0.05), there was no mutant gene detected among the controls group. Results showed no significant variations in factor V Leiden, prothrombin G20210A and MTHFR C677T gene mutation distribution among women with RSA and controls. Prothrombin time (PT) and partial thromboplastin time (PTT) in women RSA in this study were not affected significantly (P > 0.05 and P > 0.05) respectively. In conclusion the study observed that FV Leiden, FII G20210A mutation and MTHFR C677T do not associated with recurrent spontaneous abortion.