多巴胺D1受体基因多态性与注意缺陷多动障碍的相关性研究

Association between the Polymorphisms Dopamine D1 Receptor Gene and Attention Deficit Hyperactivity Disorder

目的:探讨多巴胺D1受体(Dopamine D1receptor,DRD1)基因启动子区G-48A、外显子区T1403C两个SNP位点与注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)的关联性。方法:选取87名ADHD患者和103名正常对照,提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测G-48A和T1403C两个多态性位点的基因型,SPSS13.0软件分析各位点的等位基因及基因型频率。结果:DRD1的G-48A基因型及等位基因频率分布在ADHD和对照组之间有统计学差异(p<0.05),ADHD组中等位基因A频率显著高于正常组(p<0.05)。T1403C位点基因型及等位基因频率在ADHD组与健康对照组无统计学差异。结论:DRD1基因G-48A多态性可能与ADHD的发病有关,携带有等位基因A的个体可能更容易患ADHD。T1403C多态性与ADHD的发病无明显相关性。

Objective：To investigate the relationship between the G-48A,T1403C of the dopamine D1 receptor（DRD1） gene SNPs polymorphisms and attention deficit hyperactivity disease（ADHD）.Methods：Genomic DNA was isolated from the venous blood leukocytes of 87 unrelated patients with ADHD and 103 healthy unrelated individuals（control group）.Polymorphism of G-48A and T1403C were genotyped by PCR-restriction fragment length polymorphisms（PCR-RFLP）.Genotype and allele frequencies were ana-lyzed by SPSS13.0 software.Results：There were significant differences for both allele and genotype frequencies of G-48A between the ADHD and control group.The allele A of G-48A in ADHD group was significantly higher than that in control group（p〈0.05）,whereas the difference of allele and genotype frequencies of T1403C was not observed between ADHD and control group.Conclusion：There is an association between G-48A polymorphism in the DRD1 gene and ADHD.The individuals with A allele of G-48A are susceptible to ADHD.There is no association between T1403C polymorphism and ADHD.