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Korean Journal of Fertility and Sterility 2006;33(1):61-68.
Published online March 1, 2006.
The Associtation between Methylenetetrahydrofolate Reductase Gene Polymorphisms and a Risk of Spontaneously Aborted Embryos.
Nick Beom Jeon, Seung Il Ji, Seung Joo Shin, Sun Hee Cha, Dong Hee Choi, Dong Jin Yim, Sang Hee Park, Suman Lee, Sang Hwa Lee, Jung Jae Ko, Nam Keun Kim
1Department of Gynecology & Obstetrics, College of Medicine, Pochon CHA University, Seongnam 463-712, Korea.
2Institute for Clinical Research, College of Medicine, Pochon CHA University, Seongnam 463-712, Korea.
3Graduate School of Life Science and Biotechnology, College of Medicine, Pochon CHA University, Seongnam 463-712, Korea.
4Functional Genomics Lab. of CHA Research Institute, College of Medicine, Pochon CHA University, Seongnam 463-712, Korea.
5Genetics Lab. of Infertility Medical Center, CHA General Hospital, Seoul 135-081, Korea.
Abstract
OBJECTIVE
This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. METHODS: DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). CONCLUSION: MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.
Key Words: MTHFR; Abortus; Polymorphism; Homocysteine


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