摘要： 神经管畸形是由遗传和环境因素共同作用而导致的一种常见的出生缺陷。遗传因素中包括细胞增殖因子、转录因子及影响叶酸代谢的关键酶的基因。本文着重从动物模型和群体流行病学调查两方面，简述目前研究的热点基因及特定位点的遗传多态性与神经管畸形的关系，从而揭示多因素作用在神经管畸形病因学研究中的意义。

Progress in Researches on Neural Tube Defects Related the Genes
QU Mei，LI Zhu
Institute of Reproductive and Child Health of Peking University,National Reference Laboratory on Reproductive Health Research Ministry of Health，Beijing 100083，China
Abstract:Neural tube defects are common birth defects which are ascribed to the combination of genetic and environmental factors.The genetic factors include cell growth factors,transformation factors and key enzymic genes involved in folate metabolism.This paper reviews the genes as focus of current investigantion and the relationship between the genetic polymorphism on the specific sites and neural tube defects based on animal model and population epidemiological study.It indicats that the multifactors play an important role in the etiology of neural tube defects.
Key words：neural tube defects; genetic polymorphism

关键词: 基因多态性, 神经管畸形