Methylenetetrahydrofolate reductase gene polymorphism and congenital heart disease
- VernacularTitle:亚甲基四氢叶酸还原酶基因多态性与先天性心脏病
- Author:
Yu FANG
;
Jianguo HU
- Publication Type:Journal Article
- Keywords:
Methylenetetrahydrofolate reductase;
Gene polymorphism;
Congenital heart disease
- From:
Journal of Medical Postgraduates
2003;0(07):-
- CountryChina
- Language:Chinese
-
Abstract:
Methylenetetrahydrofolate reductase(MTHFR),a key enzyme in methionine-folic acid metabolism,participates in the synthesis of thymidine monophosphate(TMP) and purine as an indirect donator of methylium.It plays an important role in maintaining the normal level of homocysteine and DNA repair and replication.The MTHFR gene mutation decreases the activity of enzymes,increases the homocysteine level of blood plasma,and induces abnormal DNA methylation and various diseases.This review focuses on the structure and function of the MTHFR gene,its polymorphism and the relationship between its polymorphism and congenital heart disease.
