从线粒体转录因子基因多态性位点筛选预测优秀耐力运动员的分子标记研究  

Association Study of SNPs in Mitochondrial Transcription Factor Genes with Elite Athletic Status

作　　者：何子红[1] 胡扬[2] 李燕春[2] 龚丽景[2] 金晶[3] 

机构地区：[1]国家体育总局体育科学研究所,北京100061 [2]北京体育大学,北京100083 [3]浙江农林大学,浙江杭州311300

出　　处：《体育科学》2013年第7期34-38,共5页China Sport Science

基　　金：国家自然科学基金项目(31100853);国家体育总局体育科学研究所所基本业务费(11-03;12-15);国家科技部科技支撑项目(2003BA904B04)

摘　　要：比较线粒体转录因子基因多态性位点在优秀耐力运动员与对照组的分布频率差异,筛选预测优秀耐力运动员的基因型。研究方法:应用Case-Control实验设计,采用基质辅助激光解吸电离飞行时间质谱技术对线粒体转录因子A、B1和B2编码基因的全部标签单核苷酸多态性位点进行分型,双荧光素酶报告基因的方法分析其生物学功能。研究结果:1)rs2306604T等位基因在男运动员组的分布频率显著高于男对照组。rs10802426T等位基因在男运动员组的分布频率显著高于男对照组,在女运动员组显著低于女对照组。2)rs2306604下调相对荧光素酶活性,在运动员组频率高的基因型有显著高的相对荧光素酶活性。rs10802426上调基因表达,但两个纯合子之间没有达到显著性差异。结论:rs2306604是预测男耐力运动员的分子标记,并且调控基因转录;rs10802426需要进一步的研究。Objective：To analyze the polymorphism distribution frequency difference in mitochondrial transcription factor genes between elite endurance athlete and controls.Methods：The matrix-assisted laser desorption/ionization time-of-flight mass spectrometry was used to genotype all tagged single nucleotide polymorphisms（SNPs） of the TFAM,TFB1M and TFB2M genes,and the dual-luciferase reporter assay was used to explore biological function of of the associated SNPs.Results：The T allele frequency of rs2306604 is higher in male athletes than male controls.The T allele frequency of rs10802426 is higher in male athletes than male controls,but that is lower in female athletes than female controls.rs2306604 polymorphism down-regulates the relative luciferase activity,and the higher genotype in male athletes has higher relative luciferase activity.rs10802426 polymorphism up-regulates gene expression,which did not attain significant difference between two homozygous.Conclusion：rs2306604 was the gene marker for predicting male endurance athletes.

关 键 词：长跑 基因多态性 关联研究 报告基因 

分 类 号：G804.7[文化科学—运动人体科学]