多巴胺D4受体基因启动子区多态性位点与注意缺陷多动障碍的关联研究  

Association of polymorphisms in promoter region of DRD4 gene and attention deficit hyperactivity disorder

作　　者：曹银利[1] 唐成和[1] 李树军[1] 常晓[1] 崔勤涛[1] 

机构地区：[1]新乡医学院第一附属医院小儿内科,河南卫辉453101

出　　处：《现代生物医学进展》2010年第23期4520-4523,共4页Progress in Modern Biomedicine

摘　　要：目的:探讨多巴胺D4受体基因启动子区-1240L/S,-616C/G和-521C/T三个多态性与注意缺陷多动障碍(Attention deficithyperactivity disorder,ADHD)的关系。方法:取无亲缘关系的ADHD患者及对照组各166名,采用等位基因特异性扩增技术(allele specific amplification,ASA)及聚合酶链式反应琼脂糖凝胶电泳技术,检测ADHD患者和对照组基因型和等位基因的频率分布。结果:DRD4基因-521C/T的基因型及等位基因频率分布在ADHD组与正常对照组存在显著性差异(p<0.05),ADHD组的T等位基因的频率显著高于正常对照组(x2=9.827,p=0.002,OR=1.639,95%CI=1.202-2.234)。DRD4基因启动子区2个功能多态性位点-616C/G及-1240L/S的基因型及等位基因频率在正常组与ADHD组的分布无显著性差异(p>0.05)。结论:-521C/T位点与ADHD的易感性存在关联,且-521C/T等位基因是决定ADHD个体易感性的重要因素,含有T等位基因的个体罹患注意缺陷多动障碍的相对风险增高。Objective：To investigate the relationship between the three functional polymorphisms in the promoter region of dopamine D4 receptor（DRD4） gene and attention deficit hyperactivity disorder（ADHD）.Methods：166 unrelated patients with ADHD and 166 healthy unrelated individuals were genotyped by allele specific amplification（ASA）and polymerase chain reaction（PCR） and then electrophoresis on 2% or 2.5% agarose gels.Results：There were no significant differences in genotype and allele distribution at-1240L/S and-616C/G.The genotype distribution between ADHD patients and controls was different at-521C/T（x2= 9.733,p=0.008）,the T allele frequency was significantly higher in ADHD patients compared with that in controls（x2 =9.827,p=0.002,OR=1.639,95%CI=1.202-2.234）,which indicated that T allele was a risk factor for susceptibility to ADHD.Conclusions：There is association between the DRD4-521C/T polymorphism and ADHD.The individuals with-521T allele were susceptible to this disorder.

关 键 词：注意缺陷多动障碍 多巴胺D4受体 启动子区 多态性 

分 类 号：R748[医药卫生—神经病学与精神病学]