自闭症谱系障碍的分子遗传学研究进展

Molecular genetic research progress in autism spectrum disorders

自闭症谱系障碍是一种复杂的神经发育障碍性疾病，表现的缺陷有：兴趣爱好受限，重复性的行为；语言和交流障碍；基本丧失参与社会互动能力等。自闭症谱系障碍的病因至今不清，通过对自闭症谱系障碍家族的遗传学研究发现，大约25％患者的患病原因与遗传相关。大约10％～20％的自闭症谱系障碍患者存在染色体重排和罕见的新拷贝数变异，相较而言这类变异在普通人群和未受影响的兄弟姐妹中出现的概率只有1％-2％。大量证据还表明，单核苷酸多态性与自闭症谱系障碍的易感性有关。这些结果与基因组测序数据相结合，有助于鉴定与自闭症谱系障碍相关的基因。总结了近年来自闭症谱系障碍分子遗传方向的研究成果，介绍了与自闭症谱系障碍相关的拷贝数变异、单核苷酸变异以及候选基因等遗传因素，为自闭症谱系障碍的遗传研究提供相关参考。

Autism spectrum disorders （ASDs） are a complex neurodevelopmental disorder displaying restricted interests, repetitive be- havior, impairments in language and communication, and an inability to engage in social interactions. The causes of the ASDs remain unknown for the majority of individuals with ASD. ASD is among the most heritable disorders. Family studies indicate that up to 25% of cases can be identified as a genetic cause. Chromosomal rearrangements as well as rare and de novo copy-number variants （CNVs） are present in 10% -20% of individuals with ASD, compared with 1% -2% in the general population and/or unaffected siblings. Evidences show the single-nucleotide polymorphisms （SNPs） seem to contribute to ASD susceptibility. These findings, coupled with genome sequencing data may unveil the genes implicated in ASDs. This paper summarizes the results of molecular genetic research on autism and mainly introduces the genetic risk factors such as CNVs, SNPs and candidate genes for autism spectrum disorders to provide relevant information.