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抽动秽语综合征的遗传学研究现状

Current status of genetic studies of Gilles de la Tourette syndrome.

作者信息

Barr C L, Sandor P

机构信息

Department of Psychiatry, Toronto Hospital, Ontario.

出版信息

Can J Psychiatry. 1998 May;43(4):351-7. doi: 10.1177/070674379804300402.

Abstract

Gilles de la Tourette syndrome (TS) is a familial, neuropsychiatric disorder characterized by chronic, intermittent motor and vocal tics. Despite strong evidence for a genetic basis of this disorder from family, twin, and adoption studies, no convincing evidence for genetic linkage has been reported. Numerous groups world-wide have searched for genetic susceptibility factors for TS, testing specific candidate genes in neurotransmitter systems as well as DNA markers with known locations. Several factors may complicate the search for genes for this disorder, including diagnostic uncertainties, definition of the TS phenotypic spectrum as it relates to genetic susceptibility, assortative mating, genetic heterogeneity, and unclear mode of inheritance. In this article, we review the evidence for the genetic basis of TS and the current status of genetic studies.

摘要

抽动秽语综合征(TS)是一种家族性神经精神疾病,其特征为慢性、间歇性运动性和发声性抽动。尽管家族、双胞胎和收养研究有力地证明了该疾病的遗传基础,但尚未有令人信服的基因连锁证据报道。世界各地的众多研究团队都在寻找抽动秽语综合征的遗传易感性因素,对神经递质系统中的特定候选基因以及已知位置的DNA标记进行检测。有几个因素可能会使寻找该疾病基因的工作变得复杂,包括诊断的不确定性、与遗传易感性相关的抽动秽语综合征表型谱的定义、选型交配、遗传异质性以及不清楚的遗传模式。在本文中,我们回顾了抽动秽语综合征遗传基础的证据以及基因研究的现状。

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