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目的探讨多巴胺D2受体(dopamine D2 receptor,DRD2)基因启动子区A-241G多态性位点与慢性抽动障碍是否存在相关性。方法 2004年1月至2005年10月中国医科大学盛京医院发育儿科门诊确诊的84例慢性抽动障碍患儿为研究对象,以同期来院体检健康的100名儿童为对照,均取得知情同意。提取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DRD2基因启动子区A-241G多态性位点的基因型,分析该多态性位点等位基因、基因型频率。结果 DRD2基因启动子区A-241G多态性位点的基因型频率、等位基因频率在慢性抽动障碍组和对照组间差异无统计学意义(P>0.05)。将样本按性别进行分组比较后发现,慢性抽动障碍组和对照组不同性别基因型、等位基因频率差异无统计学意义(P>0.05)。结论 DRD2基因启动子区A-241G多态性可能与慢性抽动障碍无相关性,仍需进一步研究。
Objective To investigate whether there is a correlation between A-241G polymorphism in dopamine D2 receptor (DRD2) gene promoter region and chronic tic disorder. Methods From January 2004 to October 2005, 84 children with chronic tic disorder diagnosed at Department of Pediatrics, Shengjing Hospital, China Medical University from January 2004 to October 2005 were enrolled in this study. Informed consent was obtained from 100 children who were hospitalized during the same period. The genomic DNA of venous blood leukocytes was extracted. The allele-specific amplification was used to detect the genotype of A-241G polymorphism in DRD2 gene promoter region. The allele and genotype frequencies of the polymorphic loci were analyzed. Results The genotype frequency and allele frequency of A-241G polymorphism in DRD2 gene promoter region were not significantly different between chronic tic disorder and control group (P> 0.05). After comparing the samples by sex, we found there was no significant difference in genotype and allele frequency between chronic tic disorder and control group (P> 0.05). Conclusion A-241G polymorphism of DRD2 gene promoter region may not be associated with chronic tic disorder, and further study is needed.