辽宁地区汉族人群多巴胺D4受体基因启动子区3个位点的多态性研究

Three gene polymorphisms in the promoter of Dopamine D4 receptor in Liaoning Han population

目的探讨辽宁地区汉族人群多巴胺D4受体(dopamineD4receptor,DRD4)基因启动子区的3个多态性位点的基因型及等位基因的频率分布。方法用聚合酶链反应及等位基因特异性扩增技术对100名辽宁地区汉族人的DRD4基因启动子区3个多态性进行了检测,并与其他人群做了比较。结果DRD4基因启动子区-1240L/S的等位基因频率分别为60%和40%。-616C/G的等位基因频率分别为18%和82%。-521C/T的等位基因频率分别为39%和61%。均符合Hardy-Weinberg平衡定律。辽宁地区汉族人群DRD4基因启动子区3个多态性之间不存在连锁不平衡。中国人群与其他人群基因多态性分布频率对照研究发现,-1240L/S和-616C/G2多态性分布差异存在显著性。结论DRD4基因启动子区-1240L/S和-616C/G多态性分布具有种族差异。

[Objective] To determine the distribution of the three gene polymorphisms in the promoter of Dopamine D4 receptor （DRD4） gene in Liaoning Han population. [Methods] A total of 100 healthy Liaoning Hans were studied by the use of PCR and allele specific amplification （ASA） techniques. Current results were compared with the data on other ethnic groups. [Results] （1） Within the 1130 individuals tested, the frequencies of-1240ldS in the 5＇promoter region of the DRD4 gene were found to be 60% and 40%, respectively, which met Hardy-Weinberg equilibrium. The frequencies of-616C/G were found to be 18% and 82%, respectively, which met Hardy-Weinberg equilibrium. The frequencies of-521C/T were found to be 39% and 61%, respectively, which met Hardy-Weinberg equilibrium. （2） No linkage disequilibrium was observed among three 5＇promoter region of Dopamine D4 receptor （DRD4） gene polymorphisms in Liaoning Hans. （3） There was significant difference in allele distributions of -1240L/ S and -616C/G of DRD4 between the Liaoning Han population and other ethnic populations. [Conclusion] The distributions of-1240L/S and-616C/G of DRD4 gene exhibit ethnic difference.