孤独症谱系障碍基因组学生物学标记物的研究进展

Research advances on the genomic biomarkers of autism spectrum disorder

孤独症谱系障碍(ASD)是一种以社会交往障碍、狭隘兴趣和刻板重复行为模式为特征的神经发育障碍性疾病,近年来发病率明显上升,达到1∶59,至今病因及发病机制未明。早期诊断及早期干预对ASD儿童的康复至关重要。近年ASD的生物学标记物研究取得很大进展,尤其是基因组学方面,包括基因突变、拷贝数变异、单核苷酸多态性和表观遗传。本文将对ASD基因组学生物学标记物的研究进展进行综述。

Autism spectrum disorder(ASD) is a neurodevelopmental disease characterized by impairment social interaction,repetitive behaviors and restricted interest.Recent studies have demonstrated dramatically increasing prevalence of ASD,reaching to 1∶59.However,the etiology and pathogenesis of ASD remain unknown.Early diagnosis and early intervention are crucial to the rehabilitation of ASD.In recent years,researches on biological markers of ASD has made great progress,especially in genomics,including gene mutation,copy number variation,single nucleotide polymorphism and epigenetic.This review will summarize the research progress on genomic biomarkers of ASD.