慢性高原病VHL,HIF-1α,EPO水平的测定及VHL基因598C﹥T多态性分析.docVIP

PAGE — PAGE 10 — 慢性高原病VHL、HIF - 1α、EPO水平的测定及VHL基因598CT多态性分析§ 祁玉娟1,2 杨应忠2 马燕2 崔森1 格日力2* （1青海大学附属医院， 西宁 810001) （2青海大学医学院高原医学研究中心，西宁 810001) 摘要　目的：观察慢性高原病患者血清中VHL，HIF-1α，EPO水平变化以及VHL基因598CT多态性分析，探讨慢性高原病的发病机制。方法：本研究选择平原健康汉族，高原健康组（9个汉族，21个藏族）及慢性高原病（11个汉族，19个藏族）患者；检测血液学指标Hb/Hct，SaO2；测定血清VHL，HIF-1α和EPO含量；提取基因组DNA，PCR-RFLP法进行VHL基因598 CT多态性分析。结果：CMS组Hb/Hct高于高原及平原健康组；CMS组SaO2低于高原及平原健康组；血清VHL、EPO含量三组间无差异；CMS组、高原健康组HIF-1α血清含量均低于平原健康组。结论：慢性高原病血清VHL、EPO水平无明显高表达， HIF-1α表达较平原地区偏低；慢性高原病中VHL基因598CT位点未发现突变。 关键词 慢性高原病(CMS)，VHL，HIF - 1α，EPO，VHL 598CT Plasma VHL, HIF-1α, EPO Level Detection and VHL 598CT Polymorphism analysis in CMS Yujuan Qi1,2, Yingzhong Yang1, Yan Ma1, Sen Cui2, Rili Ge1* 1 Research Center for High Altitude Medicine, Qinghai University, Xining 810001, China 2 Qinghai University Affiliated Hospital, Xining 810001, 【Abstract】Objective To observe the level of VHL, HIF-1α, EPO in Chronic Mountain Sickness (CMS) and the correlation between VHL598CT polymorphism and CMS. Methods Chinese, Tibetans, CMS from Low-land and high-land were involved. Thirty healthy Han Chinese came from sea level (Group 1), thirty healthy men (9 Han Chinese and 21 Tibetans) (Group 2) and thirty CMS patients (11 Han Chinese and 19 Tibetans) (Group 3) came from high altitude. The Hb/Hct, SaO2 were measured, and Elisa method were used to detect the level of VHL, HIF-1α, EPO in plasma. VHL598CT polymorphism were determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Results Hb/Hct in CMS group is higher than that of other two groups, while SaO2 is lower than other two groups. The level of VHL, EPO were similar between the groups. Interestingly, the HIF-1α was lower in CMS group and healthy men from high altitude group than healthy Han Chinese from sea level. The level of EPO in CMS group was not correlated with the Hb and SaO2. Conclusion The level of VHL, EPO were not high in CMS group. HIF-1α in CMS group is lower than Han Chinese from sea le