【摘要】 目的 本文应用基因检测技术，了解不同群体基因频率、基因型频率及ACE基因特点与低氧调控基因(HIFG)的关系。方法 采用聚合酶链式反应(PCR)基因扩增和聚丙烯酰胺凝胶(PAG)电移及基因序列测定技术，对高原世居藏族、蒙族、汉族和平原世居汉族四个群体血管紧张素转换酶基因(ACE)多态性的研究。结果 测得基因频率为高原汉族0.6562、藏族0.6377、蒙族0.6505和平原汉族0.7186，高原三个群体间差异无显著性，分别与平原比较差异有非常显著性(P<0.001)，基因型频率高原汉族为I/I 14%、I/D 11%、D/D 4%，藏族I/I 16%、I/D 10%、D/D 7%，蒙族I/I 14%、I/D 12%、D/D 6%，平原汉族 I/I 5%、I/D 3%、D/D 26%。显示高原三个群体基因型频率差异较小，这三个群体分别与平原人群比较差异有非常显著性(P<0.001)。另外，在Wistar鼠HIF基因序列的490bp位点有ACE基因表达。结论 本研究为进一步研究高原人低氧适应的遗传机制提供了分子生物学依据。

     【关键词】 藏族；蒙族；汉族；基因多态性；低氧

    Study of gene polymorphism and hypoxia related gene on residents livin at high altitude and plain area

    YU Man-tang,WANG Xiao-qin,CHEN Qiu-hong,et al.Qinghai High Altitude Medical Science Research Institute,Xining 810012,China

    【Abstract】 Objective This paper researched angiotensin converting enzyme(ACE) gene polymorphism of Tibetan,Mongolian,Han Chinese residents living at high altitude and Han Chinese living at plain area.Methods Applying the technology of polymearse chain reaction(PCR) gene amplification and polyacrylamide gel(PAG) electric charge movement as well as gene sequencing,aims to understand the relationship between ACE gene frequency,ACE gene type frequency and ACE gene character with hypoxia inducible factor gene(HIFG).Results Gene frequency is 0.6562,0.6377,0.6505 and 0.7186 in Han Chinese group,Tibetan group,Mongolian group at high altitude and Han Chinese at plain area respectively;there are not significant differences among three high altitude groups,but there is significant difference respectively compare to plain area(P<0.001).The gene type frequency is I/I 14%,I/D 11%,D/D 4% in Htan Chinese group at high altitude;I/I 16%,I/D 10%,D/D 7% in Tibetan group,I/I 14%,I/D 12%,D/D 6% in Mongolian group and I/I 5%,I/D 3%,D/D 26% in Han Chinese group at plain area;the result shows that there is minor difference among three high altitude groups,but there is significant difference respectively compare to plain are data(P<0.001).In addition,there is gene expression at 490bp point of gene sequence on Wistar rat.Conclusion This study provides molecular bioloic basis for further studying genetic mechanism of hypoxia adoptation of human beings at high altitude. ......