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目的探讨多巴胺D4受体(DRD4)基因启动子区的3个功能多态性与慢性抽动障碍是否存在相关性。方法选取无亲缘关系的慢性抽动障碍患儿84例以及无亲缘关系的健康个体100例,后者作为对照组。提取静脉血白细胞基因组DNA,采用聚合酶链反应及等位基因特异性扩增技术检测DRD4基因启动子区-1240L/S,-616C/G和-521C/T3个功能位点的基因型。用SHEsis在线统计软件分析各位点等位基因、基因型、单倍型频率及其组间差异。结果DRD4基因-616C/G的等位基因频率及其基因型频率在慢性抽动障碍组显著高于正常对照组(χ2=8.419,P<0.01;χ2=7.860,P<0.05),DRD4基因-1240L/S,-616C/G和-521C/T组成的单倍型LCT的频率在慢性抽动障碍组显著高于正常对照组(χ2=6.371,P<0.05)。结论DRD4基因-616C/G的等位基因可能与慢性抽动障碍相关联,携带有DRD4基因-1240L/S,-616C/G和-521C/T组成的单倍型LCT的个体可能更易患慢性抽动障碍。
Objective To investigate whether there is a correlation between three functional polymorphisms in the promoter region of dopamine D4 receptor (DRD4) gene and chronic tic disorder. Methods Totally 84 unrelated children with chronic tic disorder and 100 unrelated healthy individuals were selected as the control group. The genomic DNA of venous blood leukocytes was extracted and the genotypes of -1240L / S, -616C / G and -521C / T3 functional sites of DRD4 gene promoter region were detected by polymerase chain reaction and allele-specific amplification. SHEsis online statistical software was used to analyze the alleles, genotypes, haplotype frequencies and the differences among groups at each locus. Results The frequencies of allele and genotype of DRD4 gene -616C / G in chronic tic disorder were significantly higher than those in normal controls (χ2 = 8.419, P <0.01; χ2 = 7.860, P <0.05) / S, -616C / G and -521C / T haplotype LCT frequency in chronic tic disorder group was significantly higher than the normal control group (χ2 = 6.371, P <0.05). Conclusion The allele of DRD4 gene -616C / G may be associated with chronic tic disorder. Individuals carrying haplotype LCT consisting of DRD4 gene -1240L / S, -616C / G and -521C / T may be more susceptible to chronic tic obstacle.