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

CLC Number:

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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CNTNAP2基因在孤独症发病机制中的作用

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