湖南娄底地区汉族人群内皮素基因rs5370G/T多态性研究

Endothelin Gene rs5370G/T Polymorphism of the Hans Population in Loudi Area,Hunan Province

目的了解湖南省娄底地区汉族人群原发性高血压相关的内皮素(ET-1)基因的rs5370G/T单核苷酸多态性(single nucleotide polymorphism,SNP)分布,并与Genbank多种族人群进行比较。方法收集湖南娄底地区84名无血缘关系的汉族人群的静脉血,其中健康个体57名,高血压患者27名,提取DNA,应用PCR/SNP敏感性分子开关对ET-1基因rs5370G/T多态性进行分析,并与Genbank中的多种族人群的分布进行比较分析。结果湖南娄底地区汉族人群中ET-1基因rs5370G/T的G、T的频率分别为51.2%和48.8%,且不同性别间高血压人群与正常人群间均未见显著差异,在高血压人群与正常人群中G的频率分别为0.537,0.518(χ2=0.056,P>0.05)。然而在Genbank中,ET-1基因rs5370G/T的G、T基因频率分别为80.4%和19.6%,与湖南娄底地区人群比较有显著性差异(χ2=22.132,P<0.001)。结论湖南娄底地区汉族人群中ET-1基因rs5370G/T多态性与高血压无相关性,与Genbank中的多种族人群比较分布有明显的差异,这种差异可能是导致高血压在不同种族间的表现有所不同的遗传因素之一。

Objective To observe the allelic distribution of Endothelin gene rs5370G/T SNP in Chinese Hans population in Loudi area, Hunan Province. Method The rs5370G/T polymorphism in Endothelin gene was assayed by sensitive on/off switch of PCR/SNP technique with three primers in 84 individuals, including 27 hypertensive end 57normotensive subjects. Results The gene frequency of G was 5 l. 2 % and T was 48.8 % in Loudi Hans population. We compared the frequencies of these two alleles from Genbank, which were 80.4% end 19.6%, and further analysis demonstrated a significant difference within this survey （ P〈 0.00l ）, but no significant difference was found neither between essential hypertension（EH） and normo- tensive individuals nor between genders （0.537 VS. 0.518, P〉0.05）. Ceneulsion The results suggest that there is no relationship between the polymorphism of Endothelin gene rs5370G/T and essential hypertension, but its distribution is significantly different among the different ethnic groups. Such difference may be one of the genetic factors that contributes to the different pathogenesis, progression end prognosis in essential hypertension among the different ethnic groups..