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关于基因印记在抽动秽语综合征中潜在作用的研究。

Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome.

作者信息

Furtado S, Suchowersky O

机构信息

Division of Medical Genetics, Alberta Children's Hospital, Calgary, Canada.

出版信息

Am J Med Genet. 1994 May 15;51(1):51-4. doi: 10.1002/ajmg.1320510112.

Abstract

Genetic imprinting refers to the phenomenon whereby the precise expression of a specific trait (or disease) may depend on the sex of the transmitting parent. The purpose of the present project was to investigate the possibility for the involvement of genetic imprinting in Tourette syndrome (TS), a disease of the central nervous system in which many cases show evidence of an autosomal dominant mode of inheritance. The justification for the study arose from the noted variable expression of the associated symptoms in TS. Through the method of chart review, information regarding sex of the transmitting parent, age of onset of motor tics, as well as associated symptoms, was gathered from patients with a clear family history of TS consistent with autosomal dominant mode of transmission. No evidence was found for genetic imprinting in TS. The potential criticisms and implications of this finding are discussed.

摘要

基因印记是指特定性状(或疾病)的精确表达可能取决于传递亲本性别的现象。本项目的目的是研究基因印记是否参与抽动秽语综合征(TS),这是一种中枢神经系统疾病,许多病例显示出常染色体显性遗传模式的证据。该研究的依据源于TS相关症状的明显可变表达。通过图表回顾的方法,从具有与常染色体显性遗传模式一致的明确TS家族史的患者中收集了关于传递亲本的性别、运动抽动的发病年龄以及相关症状的信息。未发现TS存在基因印记的证据。本文讨论了这一发现可能受到的批评及其意义。

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