国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2011, Vol. 30 ›› Issue (3): 222-225.

• 综述 • 上一篇    下一篇

亚甲基四氢叶酸还原酶及甲硫氨酸合成酶基因多态性与 男性不育

刘 玲, 钱卫平   

  1. 518036 广东省深圳市，北京大学深圳医院生殖医学中心[刘 玲（现就读于汕头大学医学院），钱卫平]
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-05-15 发布日期:2011-05-15
  • 通讯作者: 钱卫平

Progress in the Research of Polymorphisms in the Methylenetetrahydrofolate Reductase and Methionine Synthase Genes with Male Infertility

LIU Ling， QIAN Wei-ping   

  1. Reproductive Medicine Center of Peking University Shenzhen Hospital， Shenzhen 518036， Guangdong Province, China[LIU Ling（Currently Studying in the Medical College of Shantou University）， QIAN Wei-ping]
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-05-15 Online:2011-05-15
  • Contact: QIAN Wei-ping

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摘要： 易感基因、环境及营养等因素在疾病发生过程中起到了重要作用。亚甲基四氢叶酸还原酶（MTHFR）、甲硫氨酸合成酶（MS）是叶酸和同型半胱氨酸（Hcy）代谢中的重要酶，其活性缺陷可能引起体内高同型半胱氨酸血症和DNA甲基化异常而导致多种疾病。目前对MTHFR基因单核苷酸多态性C677T与男性不育的相关性报道结论不一，而对另两种单核苷酸多态性（MTHFR A1298C、MS A2756G）与男性不育的相关性报道鲜见。就MTHFR及MS基因多态性与男性不育的研究进展作一综述。

关键词: 亚甲基四氢叶酸还原酶（NADPH）, 多态现象, 遗传, 5-甲基四氢叶酸-高半胱氨酸S-甲基转移酶, 半胱氨酸, 不育, 男（雄）性

Abstract: he factors, such as susceptible genes, enviroment and nutrition, play an important role in the process of disease. Methylenetetrahydrofolate reductase（ＭＴＨＦＲ） and methionine synthase（ＭＳ） are the key enzymes in folate and homocysteine metabolism. Defect of their activities may increase the sera level of homocysteinｅ（Ｈｃｙ）， induce abnormal DNA hypomethylation, thereby various dis-orders. There are some debates on the association between the polymorphism?C677T of MTHFR gene and male infertility, while there are few reports on the association between other gene polymorphisms（MTHFR A1298C，MS A2756G） and male infertility. In this review, we focused on the research of polymorphisms in the MTHFR and MS genes and Hcy in patients with male infertility.

Key words: Methylenetetrahydrofolate reductase（ＮＡＤＰＨ２）, Polymorphism, genetic, 5-methylte-rahydrofolate-homocysteine S-methyltransferase, Cysteine, Infertility, male