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亚甲基四氢叶酸还原酶(MTHFR)是甲硫氨酸-叶酸代谢中的关键酶,作为甲基的间接供体参与嘌呤和嘧呤核苷酸的重新合成,维持体内正常的同型半胱氨酸水平,并在DNA复制和修复时发挥重要作用。MTHFR基因突变可导致酶的活性降低,使血浆同型半胱氨酸水平升高及DNA甲基化异常,导致多种疾病的发生。文中分别对MTHFR基因的结构功能,MTHFR基因多态性以及其与先天性心脏病(CHD)之间的关系进行综述。
Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in methionine-folic acid metabolism, is involved in the synthesis of purine and pyrimidine nucleotides as an indirect donor of the methyl group to maintain normal in vivo homocysteine Alanine levels and play an important role in DNA replication and repair. MTHFR gene mutations can lead to reduced enzyme activity, plasma homocysteine levels and DNA methylation abnormalities, leading to a variety of diseases. In this paper, the structural function of MTHFR gene, MTHFR gene polymorphism and its relationship with congenital heart disease (CHD) were reviewed.