The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia.
- Author:
Yoong Sung NAM
;
Jong Soon CHOI
;
Kwon Soo HA
;
Zee Won LEE
;
Do Yeon OH
- Publication Type:Original Article
- MeSH:
Abortion, Spontaneous*;
Fasting;
Female;
Homocysteine;
Humans;
Hyperhomocysteinemia*;
Methylenetetrahydrofolate Reductase (NADPH2)*;
Pregnancy
- From:Korean Journal of Fertility and Sterility
1999;26(3):441-446
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
