Maternal homocysteine folic acid, MTHFR gene polymorphism and congenital heart defects in offspring / 中华围产医学杂志

ABSTRACT

Objective To explore the relationship between maternal homocysteine (HCY), folic acid, 5, 10 methylenetetrahydrofolate reductase (MTHFR) genotypes(677C→T) and occurrence of congenital heart disease (CHD) in offspring. Methods HPLC technique was used to measure the level of total plasma HCY in 32 mothers of CHD children and 23 mothers of normal children, radio immunoassay was used to measure folic acid, and MTHFR genotypes were detected by PCR RELP analysis. Results The incidence of hyperhomocysteinemia(Hhe) (34%,11 cases) in CHD maternal group was significantly higher than that in normal maternal group( P