国际妇产科学杂志

国际妇产科学杂志 ›› 2015, Vol. 42 ›› Issue (4): 421-424.

• 综述 • 上一篇    下一篇

叶酸代谢基因多态性与出生缺陷的关系

罗丽，陈岳明，王贤军   

  1. 325035 浙江省温州市，温州医科大学检验医学院生命科学院（罗丽）；杭州市第一人民医院检验科（陈岳明，王贤军）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-08-15 发布日期:2015-08-15
  • 通讯作者: 王贤军

Advances in the Relationship between Polymorphisms of Genes Involved in the Folate Metabolic Pathway and Birth Defects

LUO Li，CHEN Yue-ming，WANG Xian-jun   

  1. School of Laboratory Medicine and Life Science, Wenzhou Medical University，Wenzhou 325035，China（LUO Li）; Department of Laboratory Medicine，Hangzhou First People′s Hospital，Hangzhou 310006，China（CHEN Yue-ming，WANG Xian-jun）
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-08-15 Online:2015-08-15
  • Contact: WANG Xian-jun

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摘要： 随着我国新生儿出生死亡率明显降低，出生缺陷问题日益突出。在降低新生儿出生缺陷发生率的众多研究中，发现叶酸吸收代谢途径基因多态性与出生缺陷发生存在明显相关性。亚甲基四氢叶酸还原酶（MTHFR） 677C＞T多态性与神经管缺损发生明显相关已取得较为一致的结论。但MTHFR 677C＞T、MTHFR 1298A＞C在唇裂/腭裂、先天性心脏病、唐氏综合征的发生中所起的作用结论尚不统一，并且较少涉及叶酸代谢通路中甲硫氨酸合成酶（MTR） 2756A＞G、甲硫氨酸合成还原酶（MTRR） 66A＞G、还原型叶酸载体-1（RFC-1） 80A＞G多态性与出生缺陷的研究。就叶酸来源、吸收代谢途径及代谢途径关键基因多态性与出生缺陷的相关性进行综述。

关键词: 叶酸, 多态性, 单核苷酸, 先天畸形

Abstract: With birth mortality decreasing significantly，birth defects have become more serious in China. Increasing evidences supported the polymorphisms of genes involved in the folate metabolic pathway impact the occurrence of birth defects. MTHFR 677C＞T polymorphism impacting the occurrence of neural tube defects had reached a consistent conclusion. However，the relationship between MTHFR 677C＞T, MTHFR 1298A＞C and cleft lip/palate，congenital heart disease，Down′s syndrome is still controversial. Researches seldom took further study on the correlation between MTR 2756A＞G，MTRR 66A＞G，RFC-1 80A＞G polymorphism and birth defects. In this summary，we outlined the origination of folate，metabolic pathway and the association between the polymorphisms of genes involved in the pathway and birth defects.

Key words: Folic acid, Polymorphism, single nucleotide, Congenital abnormalities