湖南地区汉族人多巴胺D4受体基因48bp可变数目串联重复多态性分布

Distribution of genotype and allele frequencies of dopamine D4 receptor gene 48 bp variable number tandem repeat polymorphism in Chinese Han population in Hunan

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 investigate the distribution of genotype and allele frequencies of the dopamine D4 receptor（DRD4） gene exon 3 48 bp variable number of tandem repeats polymorphism in Hunan Han population. Methods The genotype and alleles of 304 healthy persons were examined with polymerase chain reaction, denaturing polyacrylamide gel electrophoresis and silver staining. Results Seven alleles and twelve genotypes were found. The most common allele was allele 5 with a frequency of 70.6%. There was statistically significant difference in allele distribution between the Hunan Han population and the Han population of other regions such as Shanghai, Beijing and Sichuan in China （ P 〈 0.05）. Different allele frequency distributions were observed when compared to other ethnic populations such as Japanese, American, Mexican, and Italian （P 〈 0.05）. Conclusion The distributions of allele ofDRD4 gene exhibit regional and ethnic heterogeneity.