Chou I-Ching, Tsai Chang-Hai, Lee Cheng-Chun, Kuo Haung-Tsung, Hsu Yu-An, Li Chia-Ing, Tsai Fuu-Jen
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Psychiatr Genet. 2004 Dec;14(4):219-21. doi: 10.1097/00041444-200412000-00010.
Recent research suggests that Tourette's syndrome (TS) may result from a defect in the dopamine system. The dopamine 1 receptor (DRD1) gene is a candidate gene in the study of the etiology of neuropsychiatric diseases that may involve dopaminergic abnormalities. We sought to test the hypothesis that the DRD1 gene might play a role in TS.
By performing an association study, we collected an independent sample of patients from the midland region of Taiwan and investigated whether DRD1 gene polymorphisms can be used as markers of susceptibility to TS. A total of 148 children with TS and 83 normal control subjects were included in the study. A polymerase chain reaction was used to identify the A/G polymorphism of the DRD1 gene. Genotypes and allelic frequencies for the DRD1 gene polymorphisms in both groups were compared.
The results showed that genotypes and allelic frequencies for the DRD1 gene polymorphisms in both groups were not significantly different.
These data suggest that DRD1 gene may not be a useful marker for prediction of the susceptibility of TS.
近期研究表明，妥瑞氏症（TS）可能源于多巴胺系统缺陷。多巴胺1受体（DRD1）基因是神经精神疾病病因学研究中的一个候选基因，这些疾病可能涉及多巴胺能异常。我们试图验证DRD1基因可能在TS中起作用这一假设。
通过进行关联研究，我们从台湾中部地区收集了独立的患者样本，并调查DRD1基因多态性是否可作为TS易感性的标志物。该研究共纳入148名TS患儿和83名正常对照受试者。采用聚合酶链反应鉴定DRD1基因的A/G多态性。比较两组中DRD1基因多态性的基因型和等位基因频率。
结果显示，两组中DRD1基因多态性的基因型和等位基因频率无显著差异。
这些数据表明，DRD1基因可能不是预测TS易感性的有用标志物。
