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Homocysteine 과다증과 관련된 반복 자연유산에서 Methylenetetrahydrofolate Reductase돌연변이에 대한 분석
남윤성,최종순,하권수,이지원,오도연,Nam, Yoon-Sung,Choi, Jong-Soon,Ha, Kwon-Soo,Lee, Zee-Won,Oh, Do-Yeon 대한생식의학회 1999 Clinical and Experimental Reproductive Medicine Vol.26 No.3
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.