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自闭症谱系障碍的分子遗传学

Molecular genetics of autism spectrum disorders.

作者信息

Shastry Barkur S

机构信息

Department of Biological Sciences, Oakland University, Rochester, MI, 48309, USA.

出版信息

J Hum Genet. 2003;48(10):495-501. doi: 10.1007/s10038-003-0064-9. Epub 2003 Sep 11.

Abstract

Autistic disorder belongs to a broad spectrum of pervasive developmental disorders. Autism is a clinically and genetically heterogeneous condition. It is characterized by impairment in a broad range of social interactions, communication, and repetitive patterns of behavior and interest. Although the exact etiology of the condition is not known, family and twin studies strongly support genetic factors in autism. Genome-wide scans suggest several susceptibility loci that may contain one or more predisposing genes. However, no such genes have been identified so far that predispose patients to autism. The condition is over 90% heritable, but the mode of inheritance is not clear. Moreover, it does not seem to be a single gene disorder. There is no cure for autism. Individualized structured education, family support services, and antipsychotic drugs are recommended. These may alleviate some behavioral problems. The identification of autism genes, an understanding of the neurobiology of the condition, and additional clinical studies may help to develop pharmacological interventions in the future.

摘要

自闭症谱系障碍属于广泛的广泛性发育障碍范畴。自闭症是一种临床和遗传异质性疾病。其特征是广泛的社交互动、沟通以及行为和兴趣的重复模式受损。尽管该疾病的确切病因尚不清楚,但家族和双胞胎研究有力地支持了自闭症中的遗传因素。全基因组扫描提示了几个可能包含一个或多个易感基因的易感位点。然而,迄今为止尚未鉴定出使患者易患自闭症的此类基因。该疾病的遗传度超过90%,但遗传模式尚不清楚。此外,它似乎不是单基因疾病。自闭症无法治愈。建议采用个体化的结构化教育、家庭支持服务和抗精神病药物。这些可能会缓解一些行为问题。自闭症基因的鉴定、对该疾病神经生物学的理解以及更多的临床研究可能有助于未来开发药物干预措施。

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