【摘要】 复发性流产（RSA）是一种多因素造成的生殖系统疾病，对育龄期夫妇生活产生极大影响。亚甲基四氢叶酸还原酶（MTHFR）通过参与叶酸代谢，将5,10-亚甲基四氢叶酸（5,10-CH₂-THF）转化为可供人体利用的活性叶酸5-甲基四氢叶酸（5-CH₃-THF）,参与人体一系列的活动。MTHFR基因突变可降低MTHFR酶的活性，降低血清叶酸水平，造成血清同型半胱氨酸（Hcy）水平升高，增加易栓症的发生，扰乱DNA的甲基化，影响母胎串扰，造成胎儿生长受限甚至死亡，引发流产。本文对MTHFR基因多态性及其对RSA的影响进行综述，为RSA发病风险的评估及其遗传学相关研究提供一定的理论依据。更多还原

【Abstract】 Recurrent spontaneous abortion（RSA） is a reproductive system disease caused by multiple factors, which has a great impact on the life of the couples of childbearing age. Methylenetetrahydrofolate reductase（MTHFR） participates in a series of activities of the human body on the basis of its participation in folic acid metabolism by converting 5,10-methylenetetrahydrofolate（5,10-CH₂-THF） into active folate 5-methyltetrahydrofolate（5-CH₃-THF） that can be used by the human body. MTHFR gene mutations of the women can reduce the activity of their MTHFR enzyme, reduce their serum folate level, cause the increase of their serum homocysteine（Hcy） level, increase the occurrence of their thrombophilia, disrupt their DNA methylation, affect the maternal-fetal crosstalk, cause their fetal growth restriction and even death, and trigger the occurrence of their RPL. This article reviews the MTHFR gene polymorphism and its effect on RSA, so as to provide the theoretical evidences for the risk assessment of RSA and its genetic related research.更多还原