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目的了解湖南地区汉族人群多巴胺D4受体(dopamineD4receptor,DRD4)基因48bp可变数目串联重复(variablenumbertandemrepeat,VNTR)多态性基因型及等位基因的频率分布。方法随机抽取湖南地区304名汉族健康正常人,采用聚合酶链反应、变性聚丙烯酰胺凝胶电泳结合银染技术检测基因型和等位基因的频率。结果(1)湖南汉族人群DRD4基因48bpVNTR多态性共检测出7种等位基因、12种基因型。最常见的等位基因是5等位基因(DRD45),频率为70.6%。(2)湖南汉族人群DRD4基因48bpVNTR多态性各等位基因频率与中国上海、北京、四川地区人群存在明显的差异。(3)湖南汉族人群DRD4基因48bpVNTR多态性各等位基因频率与日本、美国、墨西哥、意大利人群也存在明显差异。结论DRD4基因48bpVNTR多态性分布存在不同程度的地区差异和种族差异。
Objective To understand the frequency distribution of 48n bp variable subumbertandemrepeat (VNTR) polymorphism and allele of dopamine D4receptor (DRD4) gene in Han nationality in Hunan Province. Methods 304 healthy Han nationality healthy subjects in Hunan were randomly selected. The genotype and allele frequency were detected by polymerase chain reaction, denatured polyacrylamide gel electrophoresis combined with silver staining. Results (1) There were 7 alleles and 12 genotypes of DRD4 gene 48bpVNTR polymorphism in Hunan Han population. The most common allele is the 5 allele (DRD45) with a frequency of 70.6%. (2) The frequencies of 48 bp SNPs in DRD4 gene in Hunan Han population were significantly different from those in Shanghai, Beijing and Sichuan of China. (3) The frequencies of the 48 bp SNPs in DRD4 gene in Hunan Han population were also significantly different from those in Japan, the United States, Mexico and Italy. Conclusion There are different degrees of regional and ethnic differences in the distribution of 48 bp SNPs in DRD4 gene.