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대한생식의학회지 제26권 제3호 2010년
Homocysteine과다증과 관련된 반복자연 유산에서 methylenetetrahydrofolate reductase돌연변이에 대한 분석
포천중문의과대학 산부인과학교실, 내과학교실, 기초과학지원연구소 생체고분자팀
남윤성, 최종순, 하권수, 이지원, 오도연,
The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia
Nam ys, Choi js, Ha ks, Lee zw, Oh dy
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.
키워드 : Recurrent spontaneous abortion, Hyperhomocysteinemia, MTHFR mutation
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