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目的 检测中国人电压调控钠通道 7型α亚单位基因 (sodium channel,voltage- gated,type ,alpha polypeptide,SCN7A)调控区和编码区的单核苷酸多态性 (single nucleotide polymorphisms,SNPs) ,并探讨其与上海汉族人群原发性高血压的关系。 方法 采用直接测序法检测基因启动子、编码区和部分内含子的序列 ,以确定中国人群中 SCN7A基因 SNPs的位置及类型。采用聚合酶链反应 -限制性片段长度多态性及直接测序法 ,对上海汉族 96例原发性高血压患者和 96名正常血压对照者进行 SNP检测和关联研究。对所发现的 P<0 .0 5的 SNP位点 ,进一步扩大样本 (病例、对照组各 2 88例 )加以验证。结果 在 13132 bp的测序长度中 ,共发现 32个 SNP,包括启动子区 7个 ,编码区 10个 (其中改变氨基酸编码的 6个 ) ,3′非编码区 1个 ,内含子区 14个 ,其中 30个为新发现的 SNP。关联研究结果显示 SNP0 2 1在病例和对照组中的分布差异存在显著性 (P <0 .0 1) ,该 SNP多态可改变氨基酸的编码序列。 结论SCN7A基因变异可能与上海汉族人群原发性高血压相关。
Objective To detect the single nucleotide polymorphisms (SNPs) of voltage-gated, type, alpha polypeptide (SCN7A) regulatory region and coding region of Chinese voltage-regulated sodium channel, And to explore its relationship with essential hypertension in Shanghai Han population. Methods Direct sequencing was used to detect the promoter region, coding region and some introns in order to determine the location and type of SCN7A SNPs in Chinese population. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used to detect and correlate SNPs in 96 Chinese patients with essential hypertension and 96 normal controls. The SNP loci found at P <0.05 were further scaled up (2 88 cases in each case, control group). Results A total of 32 SNPs were found in the 13132 bp sequence, including 7 promoter regions, 10 coding regions (6 of which were changed by amino acids), 1 3 non-coding region and 14 introns , Of which 30 were newly discovered SNPs. The association study showed that SNP0 2 1 was significantly different in the distribution of cases and controls (P <0.01). The SNP polymorphism could change the coding sequence of amino acids. Conclusion SCN7A gene mutation may be associated with essential hypertension in Shanghai Han population.