journal1 ›› 2020, Vol. 28 ›› Issue (5): 551-554.DOI: 10.11852/zgetbjzz2019-0762

Special Issue: 孤独症谱系障碍

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Research advances on the genomic biomarkers of autism spectrum disorder

WEI Nian-jin, WANG Yu   

  1. Department of Children Health Care, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
  • Received:2019-08-12 Online:2020-05-10 Published:2020-05-10
  • Contact: WANG Yu,E-mail:


韦念堇 综述, 王瑜 审校   

  1. 上海交通大学附属儿童医院,上海市儿童医院儿童保健发育行为科,上海 200062
  • 通讯作者: 王瑜,
  • 作者简介:韦念堇(1993-),女,广西人,研究生在读,学士学位,主要研究方向为儿童发育行为。
  • 基金资助:

Abstract: 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.

Key words: autism spectrum disorders, biomarker, copy number variant, epigenetic

摘要: 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。

关键词: 孤独症谱系障碍, 生物学标记物, 拷贝数变异, 表观遗传

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