Barr C L, Wigg K G, Zovko E, Sandor P, Tsui L C
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet. 1997 Feb 21;74(1):58-61.
A defect in the dopamine system has been hypothesized as the etiological defect in Gilles de la Tourette syndrome (TS). In this report, we test the hypothesis that the dopamine D5 receptor locus (DRD5) is linked to the genetic susceptibility to TS in five families studied in Canada. We tested for linkage to the dopamine D5 receptor gene using a microsatellite polymorphism located in the same cosmid clone. Using an autosomal dominant model with reduced penetrance, we were able to exclude linkage in four of the five families for the TS and chronic multiple tics (CMT) phenotype. Also, no evidence for linkage was found using nonparametric methods in all five families.
多巴胺系统缺陷被认为是抽动秽语综合征（TS）的病因缺陷。在本报告中，我们对多巴胺D5受体基因座（DRD5）与加拿大五个研究家庭中TS的遗传易感性相关这一假设进行了检验。我们使用位于同一黏粒克隆中的微卫星多态性对多巴胺D5受体基因进行连锁检测。采用显性遗传模型并降低外显率，我们能够排除五个家庭中四个家庭的TS和慢性多发性抽动（CMT）表型的连锁关系。此外，在所有五个家庭中使用非参数方法均未发现连锁证据。
