journal1 ›› 2020, Vol. 28 ›› Issue (1): 45-47.DOI: 10.11852/zgetbjzz2019-0454

Special Issue: 孤独症谱系障碍

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Research progress on the genetics of autism spectrum disorder

LI Sheng, JIANG Hong, FEI An-xing, ZOU Tian-tian   

  1. Huangshi Maternity and Children′s Health Hospital of Edong Healthcare Group, Huangshi, Hubei 435000, China
  • Received:2019-04-04 Online:2020-01-10 Published:2020-01-10
  • Contact: ZOU Tian-tian,E-mail:632177007@qq.com

孤独症谱系障碍的遗传学研究进展

李胜, 江鸿, 费安兴, 邹甜甜   

  1. 鄂东医疗集团黄石市妇幼保健院,湖北 黄石 435000
  • 通讯作者: 邹甜甜,E-mail:632177007@qq.com
  • 作者简介:李胜(1988-),男,湖北人,博士研究生,主要研究方向为生殖发育和遗传代谢性疾病
  • 基金资助:
    湖北省卫生健康委科研联合基金青年人才项目资助(WJ2019H447)

Abstract: Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors,repetitive and stereotyped behaviors.ASD children usually have cognitive and emotional disorders,mainly caused by factors such as early development,genetic and abnormal brain functions.This review combs the advances in genetics of ASD.

Key words: autism spectrum disorder, genetic disease, chromosome, gene copy numbers

摘要: 孤独症谱系障碍是(ASD)一种神经行为发育障碍性疾病,主要表现为不同程度的社会交往障碍、重复刻板行为,其主要是由早期发育、遗传、脑部功能异常等因素导致,在认知和情感上存在障碍。本文就ASD的遗传学研究进展进行综述。

关键词: 孤独症谱系障碍, 遗传病, 染色体, 基因拷贝数

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