Clinical and Experimental Reproductive Medicine
- 제26권3호
- /
- Pages.441-445
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- 1999
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- 2233-8233(pISSN)
- /
- 2233-8241(eISSN)
Homocysteine 과다증과 관련된 반복 자연유산에서 Methylenetetrahydrofolate Reductase돌연변이에 대한 분석
The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia
- 남윤성 (포천중문의과대학 산부인과학교실) ;
-
최종순
(기초과학지원연구소 생체고분자팀)
;
-
하권수
(기초과학지원연구소 생체고분자팀)
;
- 이지원 (기초과학지원연구소 생체고분자팀) ;
-
오도연
(포천중문의과대학 내과학교실)
- Nam, Yoon-Sung (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
-
Choi, Jong-Soon
(Biomolecule Research Team, Korea Basic Science Institute)
;
-
Ha, Kwon-Soo
(Biomolecule Research Team, Korea Basic Science Institute)
;
- Lee, Zee-Won (Biomolecule Research Team, Korea Basic Science Institute) ;
-
Oh, Do-Yeon
(Department of Medicine, College of Medicine, Pocheon CHA University)
- 발행 : 1999.09.30
초록
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.