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目的 :通过对促红细胞生成素 (Erythro poietin ,EPO)基因 3′端 2 5 6bp的低氧反应增强子 (Hy poxia -responsiveenhancer)的研究 ,观察平原地区健康人是否存在基因多态性。方法 :取平原地区汉族男性健康受检者外周静脉血白细胞 ,提取基因组DNA ,然后对该区进行PCR扩增后 ,测序分析。结果 :在平原地区汉族健康人中 ,EPO基因氧敏感区增强子存在T—G突变。结论 :平原地区健康人EPO基因低氧反应增强子存在多态性 ,但对EPO低氧反应功能的影响有待进一步研究
OBJECTIVE: To investigate the effect of Hypoxia-responsive enhancers on the 3 ’end of Erythropoietin (EPO) gene in healthy volunteers in plain areas. Methods: Peripheral venous blood leucocytes were collected from healthy male volunteers of Han nationality in plain areas and genomic DNA was extracted. Then the region was amplified by PCR and sequenced. Results: T-G mutation existed in the oxygen sensitive region of EPO gene in healthy Han people in plain area. Conclusion: There are polymorphisms of EPO hypoxia response enhancers in healthy volunteers in the plain areas, but their effects on the hypoxic response of EPO need to be further studied