5,10-亚甲基四氢叶酸还原酶基因多态性与不育不孕症相关性研究进展

摘要/Abstract

摘要： 5,10-亚甲基四氢叶酸还原酶是叶酸代谢通路中的关键酶,在编码该酶的MTHFR基因中已发现多种单核苷酸多态性位点可能导致该酶活性的降低。该酶维持体内同型半胱氨酸正常水平及参与DNA的合成。MTHFR基因多态性被发现可能与男性不育及育龄女性复发性流产有关,将可能导致体内高同型半胱氨酸水平和DNA合成障碍及低甲基化反应,使人体叶酸代谢发生障碍。本文就5,10-亚甲基四氢叶酸还原酶基因多态性对男性不育、育龄女性复发性流产的影响进行综述。

关键词: 5,10-亚甲基四氢叶酸还原酶, 基因多态性, 不育不孕症

Abstract: 5,10-methylenetetrahydrofolate reductase (MTHFR) is the key enzyme in folic acid metabolic pathways. Currently data reported that single nucleotide polymorphisms may decrease the activity of the enzyme. The enzyme keeped the normal levels of homocysteine in body and involved in the synthesis of DNA. MTHFR gene polymorphism was found to be probably related to male sterility and recurrent miscarriage of childbearing women, leading to high homocysteine levels and the disorder of DNA synthesis and low methylation reaction. All of these make the folate metabolism disorder. This paper discusses the association between genetic factor (gene polymorphism of 5,10-methylenetetrahydrofolate reductase) and male infertility and recurrent miscarriage of childbearing women.

Key words: 5,10-methylenetetrahydrofolate reductase, gene polymorphism, infertility

中图分类号:

R711

刘丹琦, 盛阳昊, 王萍, 颜晓敏, 周伯庭. 5,10-亚甲基四氢叶酸还原酶基因多态性与不育不孕症相关性研究进展[J]. 中国临床药理学与治疗学, 2015, 20(2): 235-240.

LIU Dan-qi, SHENG Yang-hao, WANG Ping, YAN Xiao-min, ZHOU Bo-ting. Progress on association between methylenetetrahydrofolate reductase genetic polymorphism and the risk of infertility[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2015, 20(2): 235-240.

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