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KMID : 1189120080050020119
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대한의학유전학회지
2008 Volume.5 No. 2 p.119 ~ p.124
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Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy
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Kim Do-Jin
Yang Jae-Hyuk
Chung Jin-Hoon
Ryu Hyun-Mee
Kim Moon-Young
Park So-Yeon
Choi June-Seek
Kim Shin-Young
Ahn Hyun-Kyong
Kim Jin-Woo
Han Joung-Yeol
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Abstract
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Purpose: Aneuploidy such as Down syndrome or Edward syndrome is a major cause of mental retardation and fetal loss. It was induced by a failure of normal chromosomal segregation during meiosis (meiotic nondisjunction). This study was done to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphism and fetal aneuploidy.
Material and Methods: We obtained DNA samples from 37 women who had a fetus with aneuploidy and 78 women who had delivered at least two healthy children without a history of any miscarriage or abnormal pregnancy. The polymorphisms were analyzed by a PCR-based restriction fragment length polymorphism.
Results: The frequencies of the MTHFR 677 CC, CT and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in the genotype frequencies between two groups. In the MTRR A66G polymorphism, the frequencies of the genotypes (AA, AG and GG) were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1% and 5.4% in the case group, respectively. The frequency of the MTRR A66G polymorphism was significantly increased in the case group with an odds ratio of 6.5 (95% CI: 2.3-18.6, p <0.05).
Conclusion: This study suggests that mother carrier with the MTRR 66G allelehas an increased risk of fetal aneuploidy, while the MTHFR 677T allele is not associated with the risk of fetal aneuploidy. The MTRR A66G polymorphism may be related to chromosome aneuploidy.
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KEYWORD
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Methylentetrahydrofolate Reductase, Methionine synthase reductase, Polymorphism, Aneuploidy
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