中文摘要：

目的探讨抽动障碍（TD）患儿阿立哌唑治疗前后多巴胺D2受体（DRD2）与多巴胺转运体（DAT）的mRNA表达水平变化,分析DRD2、DAT基因表达与抽动障碍临床症状、疗效之间的关系,为抽动障碍的辅助诊断和疗效评价提供依据。方法采用RT-PCR技术检测60例TD患儿治疗前后外周血淋巴细胞DRD2 mRNA、DAT mRNA的表达,并分析其与TD病情的相关性。60例健康儿童为对照组。结果 TD患儿治疗前DRD2、DAT mRNA的表达较对照组显著增高（P〈0.05）;治疗3个月后,DRD2 mRNA表达水平明显降低,差异有统计学意义（P〈0.05）,而DAT mRNA表达差异无统计学意义（P〉0.05）。中、重度TD患儿的DRD2mRNA表达水平与耶鲁综合抽动严重程度评分（YGTSS）呈正相关（r=0.542、0.546,P〈0.05）,中度TD患儿的DAT mRNA表达水平与YGTSS评分呈正相关（r=0.209,P〈0.05）。结论外周血淋巴细胞DRD2 mRNA的表达可作为TD诊断、疾病严重程度评估和临床疗效评价的指标之一。

英文摘要：

Objective To investigate the mRNA expression of dopamine receptor D2（DRD2） and dopamine transporter（DAT） in peripheral blood lymphocytes before and after treatment in children with tic disorder（TD）. Methods RT-PCR was used to measure the mRNA expression of DRD2 and DAT in peripheral blood lymphocytes before and after treatment in 60 children with TD. The correlations between mRNA expression of DRD2 and DAT and the severity of TD were analyzed. Sixty healthy children served as the control group. Results Before treatment, the children with TD had a significant increase in the mRNA expression of DRD2 and DAT compared with the control group（P〈0.05）. After 3 months of treatment with oral aripiprazole, the mRNA expression of DRD2 decreased significantly（P〈0.05）, while that of DAT showed no significant changes in children with TD. In the children with moderate or severe TD, the mRNA expression of DRD2 was positively correlated with Yale Global Tic Severity Scale（YGTSS） score（P〈0.05）. In the children with moderate TD, the mRNA expression of DAT was positively correlated with YGTSS score（P〈0.05）. Conclusions In children with TD, the mRNA expression of DRD2 in peripheral blood lymphocytes can be used as one of the indicators for diagnosing TD, assessing the severity of TD, and evaluating clinical outcomes.