辽宁地区汉族人群多巴胺D1受体基因启动子区3个位点的多态性研究

Study of three genes' polymorphisms in the promoter of Dopamine D1 receptor in Chinese Han population in Liaoning

目的探讨辽宁地区汉族人群多巴胺D1受体(dopamine D1 receptor,DRD1)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。方法用等位基因特异性扩增技术对101名辽宁地区汉族人的DRD1基因启动子区3个多态性进行检测,并与文献中的其他人群进行比较。结果①DRD1基因启动子区-2102C/A的等位基因频率分别为47.5%和52.5%。-800T/C的等位基因频率分别为36.6%和63.4%。-48G/A的等位基因频率分别为43.6%和56.4%。均符合Hardy-Weinberg平衡定律。②辽宁地区汉族人群DRD1基因启动子区3个多态性之间不存在连锁不平衡。③中国人群与其他人群基因多态性分布频率对照研究发现,-2102C/A、-48G/A多态性分布差异有统计学意义,而-800T/C多态性分布差异没有统计学意义。结论 DRD1基因启动子区-2102C/A、-48G/A多态性分布具有种族差异,-800T/C多态性分布不具有种族差异。

[Objective] To determine the distribution of three gene polymorphisms in the promoter of dopamine D1 receptor （DRD1） gene in Chinese Han population Liaoning. [Methods] A total of 101 healthy Liaoning Hans were studied by the use of allele specific amplification （ASA） techniques. Current results were compared with the data on other ethnic groups from references. [Results] Within the 101 individuals tested, the frequencies of -2102C/A in t~_.c 5＂-promoter region of the DRD1 gene were found to be 47.5% and 52.5%, respectively, which lv, et Hardy-Weinberg equilibrium. The frequencies of -800T/C were found to be 36.6% and 63.4%, recctively, which met Hardy- Weinberg equilibrium. The frequencies of-48G/A were found to be 43.6% and 56.4%, respectively, which met Hardy-Weinberg equilibrium. No linkage disequilibrium was observed among three 5＂-promoter region of dopamine D1 receptor （DRD1） gene polymorphisms in Liaoning Hans. There was significant difference in allele distributions of -2102C/A, --48G/A of DRD1 between the Liaoning Han population and other ethnic populations. There was not significant difference in allele distri- butions of-800T/C of DRD1 between the Liaoning Han population and other ethnic populations. [Conchl- sions] The distributions of-2102C/A, -48G/A of DRD1 gene exhibit ethnic heterogeneity. The distributions of -800T/C of DRD1 gene dose not exhibit ethnic heterogeneity.