自闭症谱系障碍的遗传学

Genetics of autism spectrum disorder.

作者信息

Klauck Sabine M

机构信息

Division of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany.

出版信息

Eur J Hum Genet. 2006 Jun;14(6):714-20. doi: 10.1038/sj.ejhg.5201610.

DOI:10.1038/sj.ejhg.5201610

PMID:16721407

Abstract

Autism is a highly heritable complex neurodevelopmental disorder characterized by distinct impairments of cognitive function in the field of social interaction and speech development. Different approaches have been undertaken worldwide to identify susceptibility loci or genes for autism spectrum disorders. No clear conclusions can be made today about genetic loci involved in these disorders. The review will focus on relevant results from the last decade of research with emphasis on whole genome screens and association studies.

摘要

自闭症是一种高度可遗传的复杂神经发育障碍，其特征是在社交互动和言语发展领域存在明显的认知功能损害。世界各地已采取不同方法来确定自闭症谱系障碍的易感基因座或基因。目前对于涉及这些障碍的基因座尚无明确结论。本综述将聚焦过去十年研究的相关结果，重点关注全基因组筛查和关联研究。