孤独症谱系障碍易感基因相关研究进展

杨志亮; 孙桂莲

doi:10.7499/j.issn.1008-8830.2016.03.018

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中国当代儿科杂志 ›› 2016, Vol. 18 ›› Issue (3) : 282-287. DOI: 10.7499/j.issn.1008-8830.2016.03.018

综述

孤独症谱系障碍易感基因相关研究进展

杨志亮, 孙桂莲

作者信息 +

Research advances in candidate genes for autism spectrum disorder

YANG Zhi-Liang, SUN Gui-Lian

Author information +

文章历史 +

摘要

孤独症谱系障碍(ASD)是神经发育过程中的一种发育障碍性疾病,是多个易感基因参与发病的多基因疾病。目前已报道的易感基因有100 多个,相关研究包括易感基因的染色体位点研究、易感基因筛查研究和易感基因的表观遗传学异常。已报道的易感基因编码的蛋白质有:神经细胞粘着分子;离子通道蛋白;支架蛋白;蛋白激酶、受体、载体;信号通路调控蛋白以及昼夜节律相关蛋白。易感基因突变和表达调控机制的研究进展有助了解ASD 的遗传参与的发病机制,可望能给ASD 的诊断和治疗提供新的思路。该文对ASD 易感基因方面的研究现状进行了综述。

Abstract

Autism spectrum disorder (ASD) is a kind of neurodevelopmental multigenic disorder. More than one hundred of candidate genes for ASD have been reported. The candidate gene research for ASD involves in chromosome loci and screening of candidate genes and epigenetic abnormalities for candidate genes. The reported genes encode neural adhesion molecules, ion channels, scaffold proteins, protein kinases, receptor protein and carrier protein, signaling modulate molecules and circadian relevant proteins. The research of mutation screening and expression regulation of candidate genes can help to elucidate genetic mechanisms for ASD, and may provide new approaches for the diagnosis and treatment of this disorder. This article reviews the research advance in candidate genes for ASD.

导出引用

杨志亮, 孙桂莲. 孤独症谱系障碍易感基因相关研究进展[J]. 中国当代儿科杂志. 2016, 18(3): 282-287 https://doi.org/10.7499/j.issn.1008-8830.2016.03.018

YANG Zhi-Liang, SUN Gui-Lian. Research advances in candidate genes for autism spectrum disorder[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(3): 282-287 https://doi.org/10.7499/j.issn.1008-8830.2016.03.018

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