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대한생식의학회지 제28권 제3호 2010년
반복자연유산에서 Methylenetetrahydrofolate Reductase 돌연변이에 대한 분석
포천중문의과대학 산부인과학교실1, 임상의학연구소2, 아주대학교 생명과학부3
남윤성, 남윤성1,차광렬1,김남근2,김선희2,임진우2,강금덕3,강명서2,김세현2,오도연2
The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion
Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. Material and Method: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. Results: Of 51 cases of study group, 14 (27.5%) were normal, 25 (49.0%) were heterozygosity, and 12 (23.5%) were homozygosity. Of 58 cases of control group, 20 (34.5%) were normal, 30 (51.7%) were heterozygosity, and 8 (13.8%) were homozygosity. But the difference between two groups was not significant (p=0.190). Conclusion: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the study for MTHFR mutation should be included in the workup of recurrent spontaneous abortion.
키워드 : Recurrent spontaneous abortion, MTHFR mutation
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