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目的探讨辽宁地区汉族人群多巴胺D2受体(dopamine D2 receptor,DRD2)基因启动子区-241A/G多态性位点的基因型及等位基因的频率分布。方法用等位基因特异性扩增技术对101名辽宁地区汉族人的DRD2基因启动子区-241A/G多态性进行了检测,并与其他人群做比较。结果 (1)DRD2基因启动子区-241A/G的等位基因频率分别为49%和51%,均符合Hardy-Weinberg平衡定律。(2)中国人群与其他人群基因多态性分布频率对照研究发现,DRD2基因启动子区-241A/G多态性分布存在显著性差异。结论 DRD2基因启动子区-241A/G多态性分布具有种族差异。
Objective To investigate the genotype and allele frequency distribution of the -241A / G polymorphism in the promoter region of dopamine D2 receptor (DRD2) gene of Han nationality in Liaoning Province. Methods The allele-specific amplification technique was used to detect the -241A / G polymorphism of DRD2 gene in 101 Han Chinese population in Liaoning Province and compared with other populations. Results (1) The allele frequencies of -241A / G in DRD2 gene promoter region were 49% and 51%, respectively, which all accorded with Hardy-Weinberg equilibrium law. (2) The frequency distribution of genetic polymorphism in Chinese population and other populations found that the distribution of -241A / G polymorphism in DRD2 gene promoter region was significantly different. Conclusion There is a racial difference in the -241A / G polymorphism distribution of DRD2 gene promoter region.