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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 polymorphisms of -1240L / S, -616C / G and -521C / T in dopamine D4 receptor gene promoter region and attention deficit hyperactivity disorder (ADHD). Methods: 166 unrelated ADHD patients and control subjects were enrolled in this study. Allele specific amplification (ASA) and polymerase chain reaction (PCR) agarose gel electrophoresis were used to detect ADHD patients and controls Group genotype and allele frequency distribution. Results: The genotype and allele frequency distribution of -521C / T in DRD4 gene were significantly different between ADHD group and normal control group (p <0.05). The frequency of T allele in ADHD group was significantly higher than that in control group x2 = 9.827, p = 0.002, OR = 1.639, 95% CI = 1.202-2.234). There was no significant difference in genotype and allele frequencies between the two functional polymorphisms of -616C / G and -1240L / S in DRD4 gene promoter region and ADHD group (p> 0.05). CONCLUSION: The -521 C / T locus is associated with susceptibility to ADHD. The -521 C / T allele is an important determinant of susceptibility to ADHD and the relative risk of ADHD among individuals with T allele Increase.