学术论文

      孤独症遗传学

      Genetics of autism spectrum disorders

      摘要:
      孤独症是一组具有病因和临床异质性的神经发育性疾病,通常发病于3岁以前.孤独症具有3个典型的核心症状:语言交流缺陷,社交障碍以及狭隘兴趣和重复的行为.孤独症发病率在全球范围内呈增长趋势.双生子和家族聚集性研究发现遗传因素在孤独症的发病机制中起重要作用(遗传度>90%).遗传学研究发现了孤独症的一些易感基因和位点,但仍然有70%~80%的孤独症患者遗传病因不明.
      Abstract:
      Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old.It has 3 core characteristics:deficits in verbal communication;impairment of social interaction; restricted interests and repetitive behaviors.The incidence is increasing over time worldwide.Twin and family studies have demonstrated that autism has a high heritability ( > 90% ).Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified,there are still about 70% -80% of patients for whom an autism-related genetic change cannot be identified.
      作者: 郭辉 [1] 胡正茂 [1] 赵靖平 [2] 夏昆 [1]
      Author: GUO Hui [1] HU Zhengmao [1] ZHAO Jingping [2] XIA Kun [1]
      作者单位: 中南大学医学遗传学国家重点实验室,长沙410078;中南大学生物科学与技术学院,长沙410013 湘雅二医院精神卫生研究所,长沙,410011
      刊 名: 中南大学学报(医学版) ISTICPKU
      年,卷(期): 2011, 36(8)
      分类号: R749.94
      机标分类号: R58 R3
      在线出版日期: 2011年12月5日
      基金项目: Ministry of Education of China and National Basic Research Program of China