NRXN1基因在儿童孤独症谱系障碍中的研究进展

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (4): 340-342.

NRXN1基因在儿童孤独症谱系障碍中的研究进展

刘文文综述, 杜亚松审校

上海交通大学医学院附属精神卫生中心,上海 200030

收稿日期:2012-01-16 发布日期:2012-04-06 出版日期:2012-04-06
通讯作者: 杜亚松,E-mail:yasongdu@yahoo.com.cn
作者简介:刘文文(1986-),女,在读硕士研究生,研究方向为儿童精神病学与精神卫生学
基金资助:
国家973项目(2010CB529602)

Received:2012-01-16 Online:2012-04-06 Published:2012-04-06

摘要/Abstract

摘要： 儿童孤独症是发生在婴幼儿时期的由多种生物因素引起的广泛性大脑发育障碍。病因复杂,其中遗传变异起到关键作用。识别致病基因为能更清楚地认识该疾病的神经生物学基础提供了一条更合理的途径。不少学者在孤独症谱系障碍(ASD)候选基因中进行了单核苷酸多态性(SNPs)、突变、拷贝数变异(CNVs)的研究。最近研究显示,NRXN基因家族中影响突触功能的2p16.3上轴突蛋白基因(NRXN1)在ASD患儿中频繁出现,提示该基因家族功能异常对孤独症的形成具有重要意义。本文将对NRXN1基因变异在突触对神经发育性疾病中的作用的研究进展做一综述。

关键词: 孤独症谱系障碍, NRXN家族, NRXN1基因, 功能研究

中图分类号:

R749.94

刘文文综述, 杜亚松审校. NRXN1基因在儿童孤独症谱系障碍中的研究进展[J]. 中国儿童保健杂志, 2012, 20(4): 340-342.

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