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한국인 남성 불임 환자에서 5,10-Methylenetetrahydrofolate Reductase (MTHFR) 유전자의 1298번의 다형성과의 관련성에 관한 연구
정유미,정태규,김현주,이숙환,박정훈,김남근,김세현,차광렬,이수만,Jeong, Yu-Mi,Chung, Tae-Gue,Kim, Hyun-Joo,Lee, Sook-Hwan,Park, Jung-Hoon,Kim, Nam-Keun,Kim, Se-Hyun,Cha, Kwang-Yul,Lee, Su-Man 대한생식의학회 2003 Clinical and Experimental Reproductive Medicine Vol.30 No.4
Objective: 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.