Yang Zhi-Liang, Sun Gui-Lian
Department of Pediatrics, First Affiliated Hospital of China Medical University, Shenyang 110001, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2016 Mar;18(3):282-7. doi: 10.7499/j.issn.1008-8830.2016.03.018.
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.
自闭症谱系障碍（ASD）是一种神经发育多基因疾病。已报道了一百多个ASD候选基因。ASD的候选基因研究涉及染色体位点、候选基因筛选以及候选基因的表观遗传异常。已报道的基因编码神经粘附分子、离子通道、支架蛋白、蛋白激酶、受体蛋白和载体蛋白、信号调节分子以及昼夜节律相关蛋白。候选基因突变筛查和表达调控的研究有助于阐明ASD的遗传机制，并可能为该疾病的诊断和治疗提供新方法。本文综述了ASD候选基因的研究进展。
