原发性高血压的遗传度为3%～50%,其分子基础是多个基因及其特定组合的累积效应对某些环境因子的易感性。尽管国内外学者努力探讨其发病机制,但是,由于其存在的复杂性，迄今没有重大突破。我们前期的研究证实，编码离子通道蛋白的基因TSC以及CLCNKB变异与非家族性蒙古族高血压发生关联，据此提出假设：①蒙古族高血压家系中可能存在独特的高血压易感基因,而同胞间患病个体与未患病个体基因的突变率存在差异;②在这一群体中可能存在不同危险因素的单独与交互作用。拟将采用分子流行病学分析，Haploview软件筛选少见等位基因频率的常见SNP位点，以TaqMan技术对CLCNKB基因T481S和TSC基因Gln904Arg的多态位点进行高通量基因分型。从家系开展蒙古族高血压发病机制的研究，是确定高血压致病相关基因的较好途径，对人类进化生物学和群体遗传学的理解有着重大意义。可指导我们对该群体进行早期预防。

3-50% of the observed variation in essential hypertension is attributable to genetic factors. The molecular basis of essential hypertension is multiple susceptibility genes and the cumulative effects of their specific combination to certain environmental factors. Although many domestic and international researchers make efforts in understanding the pathogenesis of hypertension, so far, there is no major breakthrough due to its complexity. Our previous study indicated that the mutations in TSC and CLCNKB gene encoding the ion channel protein are associated with the non-familial hypertension in the Mongolian population. Accordingly, first, we hypothesize that there may be unique hypertension susceptibility genes in Mongolian families, the gene mutation rate of the affected individuals may be different with that of the unaffected siblings. Second, we hypothesize that different risk factors and their interactions may contribute to the hypertension in this population. Therefore, we will explore the molecular epidemiological analysis and apply Haploview software to screen common SNPs with rare allele frequency. High-throughput Genotyping for the polymorphisms of CLCNKB T481S and TSC Gln904Arg will be performed using a TaqMan assay. A study in the pathogenesis of hypertension in Mongolian families is an useful approach to identify hypertension related genes. Importantly, it provides a way for better understanding of the human evolution biology and population genetics. This will also guide us in early prevention of hypertension in the Mongolian population.