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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 ADHD and four loci in the DRD1 gene (G-48A, G-1251C, T-800C and T1403C). METHODS: The following genetic analyzes of 138 ADHD patients and 119 normal controls were performed: Four SNP loci were analyzed by PCR-restriction enzyme analysis to detect genotype and allele frequencies at each locus, compared by χ 2 test Differences in genotype and allele frequencies between the two groups were observed. Results: ① The frequency of -48G / -48G genotype of G-48A polymorphism of DRD1 gene in ADHD group was significantly lower than that in control group (χ2 = 4.318, P = 0.045). ② There was no significant difference (P> 0.05) between ADHD group and control group in alleles and genotype frequencies of other three polymorphic sites (G-1251C, T-800C and T1403C) of DRD1 gene. Conclusion: ①The G-48A polymorphism of DRD1 gene may be associated with ADHD. The -48G / -48G genotype may be a protective factor for ADHD. ② The other three SNPs of DRD1 gene (G-1251C, T800C and T1403C) may not be associated with ADHD.