亚甲基四氢叶酸还原酶基因多态性与母儿结局

Correlation between methylenetetrahydrofolate reductase gene polymorphism and high-risk pregnancy and congenital anomalies

亚甲基四氢叶酸还原酶基因 6 77C→T突变是引起亚甲基四氢叶酸还原酶活性降低、高同型半胱氨酸血症、高危妊娠和胎儿畸形的重要遗传学因素。该文就近年来亚甲基四氢叶酸还原酶基因多态性与高危妊娠和胎儿畸形关系做一简要综述。

The 677C→T mutation in 5,10-methylenetetrahydroflate reductase gene is a major genetic factor which causes deactivation of methylenetetrahydrofolate reductase, hyperhomocysteinemia, high-risk pregnancy, recurrent pregnancy loss and congenital anomalies. In this review, we summarized researches on the correlation between methylenetetrahydroflate reductase gene polymorphism, high-risk pregnancy and congenital anomalies.