叶酸代谢基因与出生缺陷和不良妊娠的关系  

The relationship between folate metabolism Related Gene and Birth Defects,Poor Pregnancy

作　　者：刘英华[1] 陈瑛[1] 

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,苏州215002

出　　处：《中国优生与遗传杂志》2012年第8期6-8,共3页Chinese Journal of Birth Health & Heredity

基　　金：江苏省"十二五"科教兴卫工程医学重点人才资助项目(RC2011036);苏州市科技发展计划项目(SYSD2011101)~~

摘　　要：叶酸在先天性心脏病、神经管畸形等出生缺陷和早产、流产等不良妊娠中的作用越来越受到关注。然而,研究表明推广"叶酸强化"将人为地导致未来的人口对于大量的维生素产生依赖性,导致人口整体的基因组发生变化,这种人群对于某种致命的疾病将变得十分脆弱,患者体内的叶酸水平低于正常个体,产妇叶酸缺乏会因产生低出生体重的胎儿而损害胎儿的生长,另外还有流产、胎儿畸形和胎盘早剥等高发病率的风险。孕妇在妊娠前和妊娠期补充适量的叶酸可降低出生缺陷、不良妊娠等疾病的发生概率。因此,本研究就近几年国内外关于叶酸代谢相关酶基因多态性和先天性心脏病、神经管畸形等出生缺陷和早产、流产等不良妊娠关系进行简要综述。More and more study shown that folate had important role in the birth defects such as congenital heart disease and neural tube defects, adverse pregnancy such as premature birth and abortion. However, promotion ＂ folic acid fortification＂ will artificially lead to future population dependent on a large number of vitamin, lead to the overall gene composition changed, the crowd will become very fragile to a fatal disease, folate level in whose is lower than that in normal persons. Maternal folate deficiency may result in general impairment of fetal growth, which is reflected in low birth weight. Such women also have a high incidence of abortion, ab- ruptio placentae and fetal malformation. Folate supplemented in pregnant women with the appropriate dose can reduce the risk of disea- ses such as birth defects and adverse pregnancy. In this article, we discussed the relationship between polymorphisms of enzyme genes involving folate metabolism and risk of birth defects such as congenital heart disease and neural tube defects, adverse pregnancy such as premature birth and abortion.

关 键 词：叶酸代谢 基因多态性 出生缺陷 不良妊娠 

分 类 号：R174[医药卫生—妇幼卫生保健]