广西壮族原发性高血压患者短串联重复序列基因频率和核心单元重复数

Allele frequencies and core unit of short tandem repeats in essential hypertension patients of Zhuang nationality in Guangxi

目的：分析与原发性高血压（EH）相关的短串联重复序列（STR）的多态性,探讨STR核心单元重复数与EH遗传易感性的关系.方法：收集155份广西汉族EH患者以及167份正常人的外周血样.应用AmpFlSTR（R） IdentifilerTM荧光标记复合扩增系统对样本DNA进行基因型分析.比较两组人群15个STR基因座（CSFlPO、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11、TPOX、TH01、vWA、FGA）的等位基因频率和核心单元重复数.结果：EH患者D19S433基因座的等位基因频率、核心单元重复数与正常人相比差异有统计学意义;vWA基因座的等位基因频率与正常人相比差异有统计学意义,核心单元重复数与正常人相比差异无统计学意义;其余13个基因座等位基因频率、核心单元重复数分布差异无统计学意义.结论：D19S433、vWA可能与广西壮族高血压有关,STR核心单元重复数尚不能作为原发性高血压遗传易感性的遗传学参数.

Objective：To explore association of the short tandem repeats （STR） with essential hypertension （EH） and whether the number of core unit repeats of STR could be a parameter susceptibility to EH.Methods：Blood samples were collected from 155 EH patients and 167 normotensive control subjects （NT） of Zhuang nationality from Guangxi.Genotypes were determined with AmpFlSTR（R） IdentifilerTM fluorescent marker composite amplification system.Allele frequencies and the number of core unit repeats were compared between EH patients and NT,on 15 STR loci （CSFlPO,D2S1338,D3S1358,D5S818,D7S820,D8S1179,D13S317,D16S539,D18S51,D19S433,D21S11,TPOX,TH01,vWA、FGA）.Results：Allele frequency and number of core unit repeats of D19S433 showed a statistically significance,between EH patients and NT.Allele frequency of VWA showed a statistically significance,but the number of core unit repeats of it had no statistical significance between the two groups.And allele frequency and the number of core unit repeats of the remaining 13 loci had no statistical significance between the two groups.Conclusion：D19S433,vWA may be associated with EH of Zhuang people in Guangxi,and the number of core unit repeats of STR could not be used as the genetic parameter susceptibility to EH.