Abstract

Background Recurrent pregnancy loss affects 1 to 5% of women trying to conceive, I t has a significant impact at individual and social level. Methodology case-control study conducted at the research laboratory of the national center of neurological sciences, Khartoum, Sudan. All patients attending Ibrahim Malik teaching hospital and diagnosed with recurrent spontaneous abortion were included as case and healthy women at reproductive age were included as controls. The DNA was isolated by standard phenol chloroform extraction method, The PCR was done by using commercial thermal cycler machine with specific protocol. PCR products were sent for sequencing to Macro gene Europe Laboratory. Results 494 bp of MTHFR(C677T) and 174 bp of MTHFD (rs2236225) (G19581A) alleles were detected after PCR. The PCR result of MTHFR(C677T) shows; 40 (90%) forMTHFR (C677T) allele was positive in the cases and only12 (24 %) were positive for the control group. For MTHFD (G19581A) allele 42 (95%) were positive in the case group and 14 (28%) were positive in the control. When compared between case and control there was highly significant differences. The sequencing results for MTHFR C677; single Base Exchange was found C>T in the case groups, when used the mutation taster software the mutation was predicted. For MTHFD (G1958A) in the case group tow single Base Exchange were found T>A and G>A, the mutation taster software was predicted T>A mutation. Conclusion According to this result the MTHF polymorphisms might become one of the main causes of unexplained diagnosis women with recurrent spontaneous abortion

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