Thompson M, Comings D E, Feder L, George S R, O'Dowd B F
Department of Pharmacology, University of Toronto, Ontario, Canada.
Am J Med Genet. 1998 May 8;81(3):241-4.
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.
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。
