国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2011, Vol. 30 ›› Issue (3): 240-242.

• 综述 • 上一篇    下一篇

叶酸代谢相关酶基因多态性与唐氏综合征

孙立娟, 张 颖   

  1. 300052 天津医科大学总医院妇产科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-05-15 发布日期:2011-05-15

Relationship Between Polymorphism in Enzyme Genes Involving Folate Metabolism and Risk of Down Syndrome

SUN Li-juan， ZHANG Ying   

  1. Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital， Tianjin 300052， China
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-05-15 Online:2011-05-15

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摘要： 叶酸在唐氏综合征形成过程中的作用越来越受到关注。研究表明，唐氏综合征患者体内的叶酸水平低于正常个体，且妇女在妊娠前和妊娠期补充适量的叶酸可降低唐氏综合征的发生概率。叶酸在DNA合成及甲基化过程中起重要作用，但叶酸代谢相关酶的基因多态性是否会引起染色体不稳定、不分离，并导致唐氏综合征的发病率增加尚无定论。综述近年国内外关于叶酸代谢相关酶基因多态性和唐氏综合征关系的研究。

关键词: 叶酸, 唐氏综合征, 代谢, 甲基化, 多态现象, 遗传, 突变

Abstract: More and more study shown that folate had important role in the pathophysiology of Down Syndrome. Folate level in patients with Down syndrome is lower than that in normal persons. Folate supplemented in pregnant women with the appropriate dose can reduce the risk of down syndrome. Folate plays an important role in DNA synthesis and methylation. It is not decided whether polymorphism of enzyme genes involving folate metabolism cause chromosome breakage and nondisjunction which increased the risk of Down Syndrome. In this article, we discussed the relationship between polymorphisms of enzyme genes involving folate metabolism and risk of Down Syndrome.

Key words: Folic acid, Down syndrome, Metabolism, Methylation, Polymorphism, genetic, Mutation