CAJ | 학술논문

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。
비교선립체전록인자기인다태성위점재우수내력운동원여대조조적분포빈솔차이,사선예측우수내력운동원적기인형。연구방법：응용Case-Control실험설계,채용기질보조격광해흡전리비행시간질보기술대선립체전록인자A、B1화B2편마기인적전부표첨단핵감산다태성위점진행분형,쌍형광소매보고기인적방법분석기생물학공능。연구결과：1）rs2306604T등위기인재남운동원조적분포빈솔현저고우남대조조。rs10802426T등위기인재남운동원조적분포빈솔현저고우남대조조,재녀운동원조현저저우녀대조조。2）rs2306604하조상대형광소매활성,재운동원조빈솔고적기인형유현저고적상대형광소매활성。rs10802426상조기인표체,단량개순합자지간몰유체도현저성차이。결론：rs2306604시예측남내력운동원적분자표기,병차조공기인전록;rs10802426수요진일보적연구。
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.