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抽动秽语综合征的一个新基因:洞察病因机制的窗口?

A new gene for Tourette's syndrome: a window into causal mechanisms?

作者信息

Grados Marco A, Walkup John T

机构信息

Johns Hopkins Hospital, 600 North Wolfe Street, CMSC 364, Baltimore, MD 21287, USA.

出版信息

Trends Genet. 2006 Jun;22(6):291-3. doi: 10.1016/j.tig.2006.04.003. Epub 2006 May 4.

Abstract

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by impairing motor-vocal tics. Locating genetic loci by associating the phenotype with DNA translocations, inversions, gain or losses, State et al. identified SLITRK1 as a candidate gene in an individual with GTS and inv(13) (q31.1; q33.1). This gene was also associated with abnormal axonal-dendritic development in embryonic mouse cells. Although SLITRK1 is not a major causal gene for GTS, it can shed light on our understanding of the gene-based neural correlates of this disease.

摘要

抽动秽语综合征(GTS)是一种神经发育障碍,其特征是运动性-发声性抽动。通过将表型与DNA易位、倒位、增益或缺失相关联来定位基因座,State等人在一名患有GTS和inv(13)(q31.1;q33.1)的个体中确定SLITRK1为候选基因。该基因也与胚胎小鼠细胞中异常的轴突-树突发育有关。虽然SLITRK1不是GTS的主要致病基因,但它可以帮助我们了解这种疾病基于基因的神经相关性。

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