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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 association between two SNPs in G-48A and T1403C in dopamine D1 receptor (DRD1) gene promoter region and attention deficit hyperactivity disorder (ADHD). Methods: Eighty-seven patients with ADHD and 103 normal controls were selected for genomic DNA extraction. The polymorphisms of G-48A and T1403C were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Genotypes, SPSS 13.0 software analysis of alleles and genotype frequencies. Results: The frequencies of G-48A genotype and allele in DRD1 were significantly different between ADHD and control groups (p <0.05). The frequency of allele A in ADHD group was significantly higher than that of normal group (p <0.05). T1403C locus genotype and allele frequency in ADHD group and healthy control group no significant difference. Conclusion: G-48A polymorphism of DRD1 gene may be involved in the pathogenesis of ADHD. Individuals carrying allele A may be more susceptible to ADHD. T1403C polymorphism and the incidence of ADHD no significant correlation.