中文摘要：

目的：探讨α辅肌动蛋白3基因R577X多态位点与中、长距离游泳运动员运动能力的关联性。方法：应用飞行时间质谱和PCR-RFLP技术对77名中国北方汉族中、长距离游泳运动员,206名中国北方汉族普通大学生的ACTN3基因R577X位点进行解析,分析比较基因型分布特征。结果：1）ACTN3基因R577X位点的基因型分布频率在所有组都符合H-W平衡;2）优秀（健将级及以上）中、长距离游泳运动员组该位点基因型频率与对照组相比有显著性差异（χ^2=6.375;df=2,P=0.041）,RR基因型显著高于其他基因型,特别是优秀女子运动员的RR基因型频率达52.6%;3）优秀运动员组与对照组R等位基因分布有显著性差异趋势（χ^2=3.438;df=1,P=0.064）;4）RR基因型与RX＋XX基因型分布,优秀运动员组与对照组有显著性差异（χ^2=6.035;df=1,P=0.014）。结论：ACTN3基因R577X位点与优秀中、长距离游泳运动能力有关联,优秀运动员中携带RR基因型显著高于对照组,RR基因型可以作为我国该项目优秀运动员选材分子标记。

英文摘要：

The aim of the study was to examine the association between the ACTN3 R577 X polymorphism in middle-long distance swimmers.The R577 X polymorphism of ACTN3 was typed using PCR-RFLP and TOF for 77 middle-long distance swimmers and 206 college students in the northern Han nationality of China.Results：1）ACTN3 genotype distribution among all tested athletes and controls was in Hardy-Weinberg equilibrium.2）There was association between the ACTN3 R577 X polymorphism in elite MLD swimmers,RR genotype was significant higher than others（χ^2=6.375,df=2,P =0.041）,especially in elite female swimmers（52.6%）.3）R allele of the elite swimmers was higher than controls（χ^2=3.438,df=1,P=0.064）.4）Elite MLD swimmers had greater RR genotype than RX＋XX genotype compared with controls（χ^2=6.035,df=1,P=0.014）.Conclusion：ACTN3 R577 X polymorphism was associated with elite MLD swimmers status in Chinese;RR genotype was higher than controls.The SNP R577 Xcan be one of the genetic marks for Chinese elite MLD swimmers talented identification.