目的探讨多巴胺D1受体(DRD1)基因启动子区-2102C/A多态性位点与慢性抽动障碍的关系。方法收集2004年1月-2005年10月及2011年1-2月中国医科大学附属盛京医院发育儿科门诊收治的119例慢性抽动障碍患儿(慢性抽动障碍组),同期在该科门诊体检的119例健康儿童作为健康对照组,提取2组静脉血白细胞基因组DNA,采用等位基因特异性扩增技术检测DRD1基因启动子区-2102C/A多态性位点的基因型。采用基因计数法及χ2检验等统计学方法分析2组儿童及按性别分组后-2102C/A位点等位基因及基因型频率分布是否存在差异。结果 -2102C/A位点基因型分布:CC基因型在慢性抽动障碍组和健康对照组分别为28.6%和24.4%,CA基因型分别为44.5%和46.2%,AA基因型分别为26.9%和29.4%,2组基因型分布比较差异无统计学意义(χ2=0.568,P=0.753);C等位基因频率在慢性抽动障碍组和健康对照组中分别为50.8%和47.5%,A等位基因频率在2组分别为49.2%和52.5%,2组比较差异无统计学意义(χ2=0.538,P=0.463)。将样本按性别进行分组,男性组,CC基因型在慢性抽动障碍组和健康对照组分别为28.2%和23.4%,CA基因型分别为43.6%和43.8%,AA基因型分别为28.2%和32.8%,2组基因型分布比较差异无统计学意义(χ2=0.553,P=0.758);C等位基因频率在慢性抽动障碍组和健康对照组分别为50.0%和45.3%,A等位基因频率在2组分别为50.0%和54.7%,2组比较差异无统计学意义(χ2=0.619,P=0.431)。女性组,CC基因型在慢性抽动障碍组和健康对照组分别为29.3%和25.5%,CA基因型分别为46.3%和49.1%,AA基因型分别为24.4%和25.5%,2组基因型分布比较差异无统计学意义(χ2=0.174,P=0.917);C等位基因频率在慢性抽动障碍组和健康对照组分别为52.4%和50.0%,A等位基因频率在2组分别为47.6%和50.0%,2组比较差异无统计学意义(χ2=0.112,P=0.738)。结论 DRD1基因启动子区-2102C/A多态性可能与慢性抽动障碍无关。 Objective To investigate the relationship between the polymorphism site of -2102C / A in promoter region of dopamine D1 receptor (DRD1) gene and chronic tic disorder. Methods A total of 119 children with chronic tic disorder (chronic tic disorder) admitted to Pediatrics Department of Shengjing Hospital of China Medical University from January 2004 to October 2005 and January to February of 2011 were enrolled in this study. Of 119 healthy children as healthy control group, genomic DNA was extracted from two groups of venous blood leukocytes, allele-specific amplification was used to detect the genotype of the DRD1 promoter region-2102C / A polymorphism. The statistical methods such as gene counting and χ2 test were used to analyze the frequency distribution of alleles and genotypes at -2102C / A loci in two groups of children and by gender. Results Genotype Distribution at -2102C / A: The genotypes of CC were 28.6% and 24.4% in chronic tic disorder and healthy control respectively, the genotypes of CA were 44.5% and 46.2% respectively, and the AA genotypes were 26.9% and 24.9% respectively 29.4%. There was no significant difference in genotype distribution between the two groups (χ2 = 0.568, P = 0.753). The frequency of C allele was 50.8% and 47.5% in chronic tic disorder and healthy controls, respectively. The A allele The frequencies of genes in two groups were 49.2% and 52.5%, respectively. There was no significant difference between the two groups (χ2 = 0.538, P = 0.463). The genotypes of CC and CC genotypes were 28.2% and 23.4% in CHD group and 43.6% and 43.8% in CA genotypes, respectively. The AA genotypes were 28.2% and 32.8 %, There was no significant difference in genotype distribution between the two groups (χ2 = 0.553, P = 0.758). The frequency of C allele was 50.0% and 45.3% in chronic tic disorder and healthy controls, respectively. The frequency of allele A There was no significant difference between the two groups (χ2 = 0.619, P = 0.431) in 50.0% and 54.7% respectively. In the female group, CC genotypes were 29.3% and 25.5% in the chronic tic disorder group and healthy control group respectively, 46.3% and 49.1% in the CA genotypes, respectively, and 24.4% and 25.5% in the AA genotypes, respectively (Χ2 = 0.174, P = 0.917). The frequency of allele C was 52.4% and 50.0% in chronic tic disorder and healthy controls, respectively. The frequency of allele A in the two groups was 47.6% And 50.0% respectively. There was no significant difference between the two groups (χ2 = 0.112, P = 0.738). Conclusion The DRD1 gene promoter region -2102C / A polymorphism may not be associated with chronic tic disorder.