亚甲基四氢叶酸还原酶基因多态性与先天性心脏病  

Methylenetetrahydrofolate reductase gene polymorphism and congenital heart disease

作　　者：房渝[1] 胡建国[1] 

机构地区：[1]中南大学湘雅二医院心胸外科,湖南长沙410011

出　　处：《医学研究生学报》2009年第7期762-766,共5页Journal of Medical Postgraduates

基　　金：卫生部临床学科重点项目基金资助(批准号:2001-321)

摘　　要：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 tabolism, participates in the synthesis of thymidine monophosphate （TMP） and nator of methylium. It repair and rep methionine-folic acid mepurine as an indirect doplays an important role in maintaining the normal level of homocysteine and DNA The MTHFR gene mutation decreases the activity of enzymes, increases the homocysteine level of blood plasma, and induces abnormal DNA methylation and focuses on the structure and function of the MTHFR gene, its polymorphism its polymorphism and congenital heart disease. various diseases. This review and the relationship between

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 先天性心脏病 

分 类 号：R541.1[医药卫生—心血管疾病]