MTHFR基因C677T多态性与妊娠结局相关性的研究进展  

Progress in the correlation of the C677T polymorphism in the MTHFR gene and pregnancy outcome

作　　者：黄玲玲[1] 邓丽[1] Huang Lingling;Deng Li(Department of Obstetrics,the Second Affiliated Hospital of Guangxi Medical University,Nanning 530000,China)

机构地区：[1]广西医科大学第二附属医院产科,广西南宁530000

出　　处：《实用妇科内分泌电子杂志》2022年第27期18-20,共3页Electronic Journal of Practical Gynecological Endocrinology

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(编号Z-A20220571)。

摘　　要：叶酸是维生素B9家族成员的总称,它在细胞生物合成中起关键作用。亚甲基四氢叶酸还原酶(MTHFR)是叶酸代谢中的关键酶,催化5,10-亚甲基四氢叶酸转化为5-亚甲基四氢叶酸。MTHFR基因中常见的多态性是677位的胸腺嘧啶被胞嘧啶取代(677C→T),导致酶失活,从而降低叶酸代谢的效率并增加不良妊娠结局的风险。本研究主要对MTHFR C677T基因多态性与不良妊娠结局之间的关联进行综述,以为不良妊娠结局的认识提供参考。Folic acid is the general name of vitamin B9 family members,which plays a key role in cell biosynthesis.5-methylenetetrahydro fol ate reductase(MTHFR)is a key enzyme in folate metabolism,catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate.A common polymorphism in the MTHFR gene is that thymine is replaced by cytosine at position 677(677C→T),resulting in enzyme inactivation that reduces the efficiency of folic acid metabolism and increases the risk of adverse pregnancy outcomes.This study mainly reviewed the association between MTHFR C677T gene polymorphism and adverse pregnancy outcomes,providing reference for the understanding of adverse pregnancy outcomes.

关 键 词：叶酸 亚甲基四氢叶酸还原酶 同型半胱氨酸 不良妊娠结局 

分 类 号：R714.2[医药卫生—妇产科学]