同型半胱氨酸代谢相关基因与神经管缺陷的研究进展  

Advances in Researches between Genes Related to Homocysteine Metabolic and Neural Tube Defects

作　　者：王刚华[1] 郑梅玲[1] 

机构地区：[1]山西医科大学附属第一医院妇产科遗传室,太原030001

出　　处：《国际遗传学杂志》2006年第1期66-69,共4页International Journal of Genetics

基　　金：山西省科技厅攻关项目(No.041071)

摘　　要：神经管缺陷(neural tube defects,NTDs)是由于神经管的发生和分化紊乱而出现的人类出生缺陷中最常见和最严重的一组畸形。目前对其发病原因尚不清楚,一般认为是由环境因素和遗传因素共同作用造成的,目前研究的热点是同型半胱氨酸代谢相关因素与神经管缺陷的关系。本文对同型半胱氨酸代谢过程中某些关键酶和因子及其基因多态性与神经管缺陷的关系进行了综述。Neural tube defects （NTDs） are common congenital malformations that are caused by an improper neural tube closure during embryonic early development. Neural Tube Defects are likely to result from genetic and environmental factors. Now, investigation is the focus on the relationship between factors that are related to the homocysteine metabolic and risk of neural tube defects. This paper reviews the key enzymatic and important factors genes involved in the homocysteine metabolic and the relationship between the genetic polymorphism on specific sites and risk of neural tube defects.

关 键 词：神经管缺陷 同型半胱氨酸 基因多态性 MTHFR MTRR 

分 类 号：R741[医药卫生—神经病学与精神病学]