国际妇产科学杂志Issue(4)：421-424,4.
叶酸代谢基因多态性与出生缺陷的关系
Advances in the Relationship between Polymorphisms of Genes Involved in the Folate Metabolic Pathway and Birth Defects
摘要
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.关键词
叶酸/多态性,单核苷酸/先天畸形Key words
Folic acid/Polymorphism,single nucleotide/Congenital abnormalities引用本文复制引用
罗丽,陈岳明,王贤军..叶酸代谢基因多态性与出生缺陷的关系[J].国际妇产科学杂志,2015,(4):421-424,4.基金项目
杭州市科技发展计划项目 （）
