环境因素与遗传因素及两者交互作用与出生缺陷发生的关系

Roles of Environmental and Genetic Factors and Their Interaction in the Occurrence of Birth Defects

出生缺陷主要是由环境因素、遗传因素及两者交互作用所导致的。环境中的很多暴露因素,如环境内分泌干扰物、孕期母体营养不足、母体疾病及母亲的生活方式(吸烟、饮酒等),均可直接或间接作用于正在发育的胚胎或胎儿,从而影响其正常发育,导致出生缺陷。遗传物质异常主要包括基因突变和染色体畸变,亲代可以将异常的遗传物质传给子代,从而可能导致其后代产生出生缺陷。本文综述了可能导致出生缺陷发生的主要环境因素及遗传因素,并从环境因素与遗传因素交互作用方面探讨几种高发出生缺陷的发病机制。

Birth defect is mainly caused by environmental factors, genetic factors and environmental-genetic interactions. Many exposure factors in the environment, such as environmental endocrine disruptors, maternal nutritional deficiencies, maternal diseases and mothers' lifestyles(smoking, drinking, etc.), can act on embryos or fetuses directly or indirectly, which affect their normal development and lead to birth defects. Genetic abnormalities include genetic mutations and chromosomal aberrations,which can be passed from parents to offspring and may lead to birth defects. This review summarized the main environmental and genetic factors related to birth defects, and discussed the roles of environmental-genetic interactions in the pathogenesis of several birth defects with high incidence.