自闭症的遗传学

The genetics of autism.

作者信息

Spence Sarah J

机构信息

UCLA Center for Autism Research and Treatment, UCLA Neuropsychiatric Institute, and Mattel Children's Hospital at UCLA, David Geffen School of Medicine, Los Angeles, CA, USA.

出版信息

Semin Pediatr Neurol. 2004 Sep;11(3):196-204. doi: 10.1016/j.spen.2004.07.003.

DOI:10.1016/j.spen.2004.07.003

PMID:15575414

Abstract

Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric disorders. Discovery of autism susceptibility genes has been the focus of intense research efforts over the last 10 years, and current estimates suggest that 10 to 20 different interacting genes are involved. Evidence from twin and family studies demonstrates increased risk in family members not only for autistic disorder, but also for a milder constellation of similar symptoms referred to as the broader phenotype. In addition, several genetic syndromes and chromosomal anomalies have been associated with ASD. Large family studies using linkage-analysis techniques have demonstrated several chromosomal regions thought to harbor genes related to the disorder. Finally, specific candidate genes based on function and location have been explored; these studies are reviewed here.

摘要

自闭症谱系障碍（ASD）是所有神经精神疾病中遗传性最强的疾病之一。在过去十年中，寻找自闭症易感基因一直是深入研究的重点，目前估计有10到20个不同的相互作用基因参与其中。双胞胎和家族研究的证据表明，家庭成员不仅患自闭症谱系障碍的风险增加，而且患一组较轻的类似症状（称为宽泛表型）的风险也增加。此外，几种遗传综合征和染色体异常与自闭症谱系障碍有关。使用连锁分析技术的大型家族研究已经证明了几个被认为含有与该疾病相关基因的染色体区域。最后，基于功能和位置的特定候选基因也已得到探索；本文将对这些研究进行综述。