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대한생식의학회지 제30권 제4호 2010년
한국인 남성 불임 환자에서 5,10-Methylenetetrahydrofolate Reductase (MTHFR) 유전자의 1298번의 다형성과의 관련성에 관한 연구
차병원 생식의학 및 불임유전체 연구센터, 비뇨기과, 차병원
정유미, 정태규,김현주,이숙환,박정훈,김남근,김세현,차광렬,이수만
Genetic analysis for Polymorphism of 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) A1298C and Infertile Males in Korea
Jeong YM
Genome Research Center for Reproductive Medicine and Infertility, Department of Urology, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Korea
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.
키워드 : Male infertility/ MTHFR/ Pyrosequencing
교신저자 : suman@cha.ac.kr
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