叶酸代谢基因多态性与出生缺陷的关系

摘要

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.%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。