期刊文献+

儿童孤独症的遗传学研究进展

Progress in genetic research on childhood autism
下载PDF
导出
摘要 孤独症是以社交障碍、言语障碍及刻板重复行为为主要特征的一种儿童广泛性发育障碍,被认为是一多因素、多基因遗传性疾病。但迄今为止尚未发现和孤独症特异相关的基因,该文综述了近年来国际上对孤独症侯选基因的定位和研究情况。 Autism is a pervasive developmental disorder in early childhood, characterized by social communication disturbance and lalopathy accompanied with repetitive and stereotyped behaviors. Autism is considered as a multi-genetic and multi-factorial disorder. However, no autism-specifically associated genes are found now. This article reviewed foreign researches in recent years on localization and correlative analysis of the candidate genes of autism.
作者 李慧 赵正言
出处 《中国妇幼健康研究》 2006年第4期310-313,共4页 Chinese Journal of Woman and Child Health Research
关键词 儿童 孤独症 遗传学 基因 children autism genetics gene
  • 相关文献

参考文献27

  • 1Muhle R,Trentacoste S V,Rapin I.The genetics of autism[J].Pediatrics,2004,113(5):E472-E486.
  • 2Bacchelli E,Maestrini E.Autism spectrum disorders:molecular genetic advances[J].Am J Med Genet C Semin Med Genet,2006,142(1):13-23.
  • 3Vorstman J A,Staal W G,van Daalen E,et al.Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism[J].Mol Psychiatry,2006,11(1):1,18-28.
  • 4McCauley J L,Olson L M,Delahanty R,et al.A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism[J].Am J Med Genet B Neuropsychiatr Genet,2004,131(1):51-59.
  • 5Buxbaum J D,Silverman J M,Smith C J,et al.Association between a GABRB3 polymorphism and autism[J].Mol Psychiatry,2002,7(3):311-316.
  • 6Nurmi E L,Bradford Y,Chen Y,et al.Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families[J].Genomics,2001,77(1-2):105-113.
  • 7Skaar D A,Shao Y,Haines J L,et al.Analysis of the RELN gene as a genetic risk factor for autism[J].Mol Psychiatry,2005,10(6):563-571.
  • 8Gong X,Jia M,Ruan Y,et al.Association between the FOXP2 gene and autistic disorder in Chinese population[J].Am J Med Genet B Neuropsychiatr Genet,2004,127(1):113-116.
  • 9Petek E,Windpassinger C,Vincent J B,et al.Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome[J].Am J Hum Genet,2001,68(4):848-858.
  • 10Vincent J B,Herbrick J A,Gurling H M,et al.Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual[J].Am J Hum Genet,2000,67(2):510-514.

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部