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抽动秽语综合征和酒精依赖患者中多巴胺D1受体基因的突变筛查

Mutation screening of the dopamine D1 receptor gene in Tourette's syndrome and alcohol dependent patients.

作者信息

Thompson M, Comings D E, Feder L, George S R, O'Dowd B F

机构信息

Department of Pharmacology, University of Toronto, Ontario, Canada.

出版信息

Am J Med Genet. 1998 May 8;81(3):241-4.

PMID:9603612
Abstract

We report a single stranded conformational polymorphism (SSCP) analysis of the coding region of the dopamine D1 receptor (DRD1) in Tourette's syndrome (n = 50) and control (n = 50) subjects. Tourette's syndrome populations with comorbidity for attention deficit-hyperactivity disorder (AD-HD) (n = 35) and obsessive compulsive disorder (OCD) (n = 30) were also screened. As a related study, we also screened patients diagnosed with alcohol dependence (n = 72). The present study discovered no DRD1 coding region mutations in any of the Tourette's syndrome or alcohol dependent patients. One silent mutation, a C for a T at Ile49, was discovered in one control subject. The non-polymorphic structure of the DRD1 gene among the Tourette's syndrome, Tourette's syndrome comorbid with AD-HD and OCD and the alcohol dependent populations screened by SSCP suggests that coding region mutations of the DRD1 gene are unlikely to contribute to the inheritance of these disorders.

摘要

我们报告了对抽动秽语综合征患者(n = 50)和对照者(n = 50)多巴胺D1受体(DRD1)编码区的单链构象多态性(SSCP)分析。还对共患注意力缺陷多动障碍(AD - HD)(n = 35)和强迫症(OCD)(n = 30)的抽动秽语综合征人群进行了筛查。作为一项相关研究,我们还对诊断为酒精依赖的患者(n = 72)进行了筛查。本研究在任何抽动秽语综合征患者或酒精依赖患者中均未发现DRD1编码区突变。在一名对照者中发现了一个沉默突变,即第49位异亮氨酸处的C突变为T。通过SSCP筛查的抽动秽语综合征、共患AD - HD和OCD的抽动秽语综合征以及酒精依赖人群中DRD1基因的非多态结构表明,DRD1基因编码区突变不太可能导致这些疾病的遗传。

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