摘要
5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)是催化人体内叶酸代谢的关键酶,该酶具有多种基因多态性。众多研究表明其基因多态性会影响体内叶酸及同型半胱氨酸(homocysteine,HCY)水平,与神经管畸形、复发性流产、妊娠期高血压等疾病的发生密切相关,严重影响母婴健康。本文就该基因多态性的检测在生殖健康领域的临床应用价值作一综述。
5,10-methylenetetrahydrofolate reductase（ MTHFR） was a key enzyme in the metabolism of folic acid in human body,which had a variety of gene polymorphisms. Many studies showed that folate and homocysteine（ Hcy） level were influenced by the MTHFR gene polymorphism,which were closely associated with neural tube deformity,recurrent abortion and gestational hypertension,these disease seriously impacted on maternal and child health. This article reviewed the clinical application value of the gene polymorphism in the field of reproductive health.
出处
《中国妇幼卫生杂志》
2015年第5期79-83,共5页
Chinese Journal of Women and Children Health
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(No.FY-ZX-ZD-0089)
淮安市应用研究与科技攻关计划科技立项(No.HAS2014001)
