DRD1基因4个多态性位点与注意缺陷多动障碍的关联分析

Association Analysis of 4 Polymorphisms in DRD1 Gene and Attention Deficit Hyperactivity Disorder (ADHD)

目的:探讨ADHD与DRD1基因4个多态性(G-48A,G-1251C,T-800C和T1403C)单个位点的关系。方法:对138名ADHD患者和119名正常对照进行以下遗传学分析:应用PCR-限制性内切酶分析技术分析4个SNP位点,检测各位点基因型和等位基因频率,经χ2检验比较两组间各位点基因型及等位基因频率的差异。结果:①ADHD组中DRD1基因G-48A多态性-48G/-48G基因型频率明显低于对照组,差异有统计学意义(χ2=4.318,P=0.045)。②ADHD组和对照组在DRD1基因的其他3个多态性位点(G-1251C、T-800C和T1403C)等位基因和基因型频率分布均无统计学差异(P>0.05))。结论:①DRD1基因G-48A多态性与ADHD可能存在关联。-48G/-48G基因型可能是ADHD的保护因素。②DRD1基因的其他三个SNP(G-1251C,T800C和T1403C)与ADHD可能均无关联。

Objective： To investigate the relationship between each of the 4 polymorphisms（G-48A, G-1251C,T-800C and T1403C ） in DRD1 gene and attention deficit hyperactivity disorder （ADHD）. Methods： 139 patients with ADHD and 119 normal controls in Hunan area were involved： The genotype and allele frequencies of every single nucleotide polymorphisms （SNP） of the DRDI gene in these patients and normal controls were examined with polymerase chain reaction （PCR）; the significance for the association was estimated by X^2 test. Results： （1）The frequency of-48G/-48G genotype of the G-48A polymorphism of DRD1 gene was significantly lower in ADHD than that in normal controls. （2） Between patients with ADHD and normal controls, there were no significant differences in the frequencies of the genotypes and alleles of the three polymorphisms in DRD1 gene. Conclusion： （1）The G-48A polymorphism of DRD1 gene may be associated with ADHD. The -48G/-48G genotype may be a protective factor of ADHD. （2）Between ADHD and normal controls, there is no significant association in the three polymorphisms in DRD1 gene.