【摘要】 目的对原发性高血压患者及正常对照者的1号染色体进行扫描,查找与原发性高血压关联的遗传位点。方法在1号染色体上间隔10 cM遗传距离选择31个微卫星遗传位点,用DNA混合池的方法对原发性高血压患者450例和正常对照者450例的DNA样本进行基因扫描。采用CLUMP软件对患者组和对照组每个位点的等位基因频率进行比较。结果在D1S196位点(1q24.2)、D1S249位点(1q32)和D1S2667位点(1p36.22)发现患者组与对照组的等位基因频率存在显著性差异(P<0.01)。结论山东省原发性高血压患者在1号染色体的D1S196、D1S249与D1S2667位点附近可能存在原发性高血压易感基因,需要进行候选基因突变筛查。更多还原

【Abstract】 Objective To find out the genetic loci associated with essential hypertension on chromosome 1 in essential hypertension cases in Shandong province.Methods A total of 31 microsatellite markers on chromosome 1 spaced at approximately 10 cM were used in screening of two separated DNA pooling samples consisting of 450 essential hypertension cases and 450 normal controls.Statistic analysis was performed by CLUMP software to compare the difference in allele frequency of each locus between two pooled samples.Results Significant differences were found at D1S196、D1S249 and D1S2667 between cases and controls,P<0.01.Conclusion On chromosome 1,D1S196,D1S249 and D1S2667 were associated with essential hypertension in the cases of Shandong province suggesting the susceptible genes around these regions need to be further studied.更多还原