【综述】MTHFR基因多态性检测在神经管缺陷干预中的应用

  08-10-21  

李军1史海龙2帖红莉3
摘要大多数育龄妇女增补叶酸被临床证明是预防胎儿神经管缺陷行之有效的方法。但对于携带有5，10亚甲基四氢叶酸还原酶（MTHFR）基因突变的孕妇，采用正常量的叶酸增补，可能是微效甚至是无效的。孕前检测发现MTHFR基因有突变的育龄妇女，在其孕期采取叶酸加倍量的措施才能起作用。
关键词MTHFR基因多态性神经管缺陷干预
Identifieation of MTHFR gene polymorphism in application of neural tube defect prevention
LI Jun1SHI Hai?long2TIE Hong?li3
ABSTRACTIt was clinically testified that supplement of folacin for neural tube defect prevention is efficient for women of childbearing ages. But the folacin supplement in regular dose for pregnant woman with MTHFR （5,10?methylene tetrahydrofolic acid reductase） mutation maybe non?effective. The only way to improve the symptom is adding times of regular dose for women of childbearing ages.
KEY WORDSMTHFR gene polymorphismNeural tube defectInterrention