CNTNAP2基因在孤独症发病机制中的作用

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (4): 351-353.

CNTNAP2基因在孤独症发病机制中的作用

杨曹骅综述, 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:2012-02-06 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:杨曹骅,男,博士研究生在读,研究方向为儿童精神病学
基金资助:
国家基础973项目(2010CB529602)

Received:2012-02-06 Online:2012-04-06 Published:2012-04-06

摘要/Abstract

摘要： 儿童孤独症目前病因未明,且在国内外发病率呈上升趋势,目前病因学的研究热点主要集中遗传学方面。CNTNAP2(CONTACTIN-ASSOCIATED PROTEIN-LIKE 2)基因位于7q,处于全基因组扫描所发现的与孤独症关系紧密的区域,所以在近年来获得了极大的关注,而且取得了不少的突破,例如发现CNTNAP2基因的突变,单核苷酸多态性(SNP),拷贝数变异等均与孤独症发病的易感性有关。对孤独症患者的影像学检查也可以部分由CNTNAP2基因的变异所解释。最近所建立CNTNAP2基因敲除小鼠,从动物模型角度更有力的支持CNTNAP2基因对于孤独症发病的重要作用。

关键词: 儿童孤独症, CNTNAP2基因, 单核苷酸多态性, 动物模型, fMRI

中图分类号:

R749.94

杨曹骅综述, 杜亚松审校. CNTNAP2基因在孤独症发病机制中的作用[J]. 中国儿童保健杂志, 2012, 20(4): 351-353.

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