The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia / 대한불임학회지

OBJECTIVE : To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. MATERIAL AND METHOD: The blood Sample of habitual aborter with high fasting homocysteine level was tested by PCR-RFLP method. RESULTS: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, Corresponding to Ala to Val. CONCLUSIONS: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.