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自闭症的遗传学:一种异质性疾病的复杂病因

Genetics of autism: complex aetiology for a heterogeneous disorder.

作者信息

Folstein S E, Rosen-Sheidley B

机构信息

Department of Psychiatry, Tufts University School of Medicine, Boston, Massachusetts 02111, USA.

出版信息

Nat Rev Genet. 2001 Dec;2(12):943-55. doi: 10.1038/35103559.

Abstract

Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.

摘要

自1943年自闭症首次被确认为一种疾病以来,关于其病因的推测涵盖了从生物学因素到心理学因素,再回到生物学因素。在20世纪70年代和80年代的双胞胎研究得出关于遗传因素的确凿证据后,自闭症的病因学研究开始主要集中于揭示其中涉及的遗传机制。在自闭症患者中发现染色体异常和孟德尔综合征,再结合基因组筛查和候选基因研究的数据,有助于完善对自闭症谱系障碍复杂遗传学基础的认识。

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