EPAS1基因rs6756667多态性与藏族运动员的有氧运动能力.doc

EPAS1基因rs6756667多态性与藏族运动员的有氧运动能力 蒋 丽1，殷维瑶2，刘 建3，郭 慧4(1成都体育学院运动医学系，四川省成都市 610041；2四川大学临床医学院，四川省成都市 610041；3成都体育学院高教研究室，四川省成都市 610041；4四川大学华西第二医院儿科，四川省成都市 610041) 引用本文：蒋丽，殷维瑶，刘建，郭慧. EPAS1基因rs6756667多态性与藏族运动员的有氧运动能力[J].中国组织工程研究，2016，20(20):2957-2963. DOI: 10.3969/j.issn.2095-4344.2016.20.010 ORCID: 0000-0002-5745-7779(蒋丽) 文章快速阅读： 文题释义： 缺氧诱导因子1：是1992年Semenza和Wang首先发现的，随后确立了缺氧诱导因子1的结构，并证明了其cDNA的编码顺序。缺氧诱导因子1普遍存在于人和哺乳动物细胞内，常氧下(体积分数21%O2)也有表达，但合成的缺氧诱导因子1蛋白很快即被细胞内氧依赖性泛素蛋白酶降解途径所降解，只有在缺氧条件下缺氧诱导因子1才可稳定表达。 EPAS1：又称为缺氧诱导因子2αHIF-2α)，该因子属于氧代谢调节因子，在人体内代谢、血管形成等方面均具有重要的作用。 多态性：是指以适当频率在一个群体的某个特定遗传位点基因序列或非基因序列发生种或种以上变异的现象，可通过直接分析DNA或基因产物来确定。 EPAS1 gene rs6756667 polymorphism and aerobic exercise capacity of Tibetan athletes Jiang Li1, Yin Wei-yao2, Liu Jian3, Guo Hui4 (1Department of Sports Medicine, Chengdu Sport University, Chengdu 610041, Sichuan Province, China; 2West China Second Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China; 3Higher Education Research Office of Chengdu Sport University, Chengdu 610041, Sichuan Province, China; 4Department of Pediatrics, West China Second University Hospital of Sichuan University Chengdu 610041, Sichuan Province, China) Abstract BACKGROUND: Emerging evidence shows that rs6756667 SNP EPAS1-A allele is beneficial for, however, the GG genotype is detrimental for adaptation to high-altitude hypoxia in Tibetan populations. OBJECTIVE: To compare the EPAS1 gene rs6756667 polymorphism between Tibetan elite endurance athletes and Tibetan non-physical education major students and analyze its relationship to aerobic exercise capacity. METHODS: Forty Tibetan athletes in Ganzi Tibetan middle and long distance athletes sports teams (athlete group) and forty Tibetan non-physical education major students in Ganzi (student group) were included in this study. The EPAS1 gene rs6756667 polymorphic loci were determined using PCR high-resolution melting analysis. The genetic polymorphism data from this study were compared with