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Korean Journal of Fertility and Sterility 2003;30(4):325-331.
Published online December 1, 2003.
Genetic analysis for Polymorphism of 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) A1298C and Infertile Males in Korea.
Yu Mi Jeong, Tae Gue Chung, Hyun Joo Kim, Sook Hwan Lee, Jung Hoon Park, Nam Keun Kim, Se Hyun Kim, Kwang Yul Cha, Suman Lee
1Genome Research Center for Reproductive Medicine and Infertility, Korea.
2Department of Urology, Korea.
3CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Korea.
To investigate the association of genetic background between MTHFR A1298C genotype and male infertility. MATERIALS AND METHODS: We compared 377 infertile males with 396 healthy fertile males with one or more offspring. Infertile males were classified into four subtypes (281 azoospermia, 26 oligoasthenoteratozoospermia (OAT), 59 severe OAT and 11 remnants) by World Health Organization (WHO). Pyrosequencing analysis for MTHFR (methylenetetrahydrofolatereductase) A1298C variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of A1298C variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR A1298C genotype. RESULTS: We studied MTHFR A1298C variation by pyrosequencing. A1298C variation data (1298 AC; p=0.2166 and 1298 CC; p=0.5056) of MTHFR gene was no significant difference in between fertile and infertile males. CONCLUSION: The genetic analysis in MTHFR gene didn't appear genetic difference in Korean fertile and infertile males. We require further study for MTHFR gene in infertile males.
Key Words: Male infertility; MTHFR; Pyrosequencing


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