【摘要】 目的:探讨我国青少年和优秀成年100 m短跑运动员ACTN3基因rs1815739多态位点基因型和等位基因频率分布的差异性,分析rs1815739多态位点与青少年100 m短跑运动员运动能力的关联性,并检验该位点作为分子标记在我国优秀100 m短跑运动员科学选材中应用的可行性。方法:选取102名青少年(12～17岁,二级运动员及以上)和68名优秀成年(年龄≥18岁,一级运动员及以上)100 m短跑运动员(均为北方汉族),采用飞行时间质谱和PCR-RFLP技术解析rs1815739多态位点,分析比较其与206名我国北方汉族普通大学生基因型分布特征。采集青少年运动员部分速度/爆发力素质测试数据,分析该位点与青少年100 m短跑运动员速度/爆发力素质指标的关联性。结果:1)青少年运动员组和优秀运动员组与对照组在rs1815739多态性位点基因型和等位基因频率分布上均有显著性差异(P<0.05),RR基因频率分别为48.0%、52.9%和30.6%,R等位基因频率分别为71.32%、68.14%和56.07%,运动员两组间基因型和等位基因频率分布无显著性差异(χ2=0.399,P=0.819);2)青少年运动员组与对照组RR/XX OR=2.463(95%CI:1.17,5.21),RR/(RX+XX)OR=2.099(95%CI:1.29,3.42);优秀运动员组与对照组RR/XX OR=3.102(95%CI:1.26,7.66),RR/(RX+XX)OR=2.554(95%CI:1.46,4.47),运动员两组间3种基因型优势比较均无显著性差异(P>0.05);3)青少年运动员组中RR基因型30 m、60 m、100 m、立定跳远、立定三级跳远和后抛2 kg实心球测试成绩均显著优于XX基因型(P<0.05)。结论:我国青少年及优秀成年100 m短跑运动员在ACTN3基因rs1815739多态位点基因型和等位基因频率分布上存在一致性特点,该位点多态性与我国优秀青少年和优秀成人100 m短跑运动员速度和爆发力素质存在显著关联,RR基因型可作为我国该项目优秀运动员选材分子标记,但仍需扩大杰出运动员的样本量,进一步验证其科学性和可行性。更多还原

【Abstract】 Objective: To explore the differences between the genotype and allele frequency distribution of the ACTN3 gene rs1815739 polymorphic locus in Chinese youth and excellent adult100 m sprinters, and to analyze the association between the rs1815739 polymorphic locus and the athletic ability of young 100 m sprinters. Testing the feasibility of using this locus as a molecular marker in the scientific selection of excellent 100 m sprinters in China. Methods: Select 102 young people(12 to 17 years old, national level 2 and above) and 68 outstanding adults(age over 18 years, national level 1 and above) 100 m sprinters(all north Han nationality), using time-of-flight mass spectrometry and PCR-RFLP technology to analyze the rs1815739 polymorphic locus, analyzing and comparing its genotype distribution characteristics with 206 ordinary Han nationality college students in northern China, collecting some speed/explosive quality test data of young athletes, and analyzing the locus correlation with the speed/explosive quality index of young 100 m sprinters. Results: 1) There were significant differences in the rs1815739 polymorphism site genotype and allele frequency distribution among the young athlete group and the excellent athlete group and the control group(P<0.05), the RR gene frequencies were 48.0%, 52.9% and 30.6% respectively, the R allele frequencies were 71.32%, 68.14% and56.07% respectively. There was no significant difference in the genotype and allele frequency distribution between the two groups of athletes(χ2=0.399, P=0.819). 2) Young athlete group and control group RR/XX OR=2.463(95% CI: 1.17, 5.21), RR/(RX+XX) OR=2.099(95% CI:1.29, 3.42); excellent athlete group and control group RR/XX OR=3.102(95% CI: 1.26, 7.66),RR/(RX+XX) OR=2.554(95% CI: 1.46, 4.47), there was no significant difference in the comparison of the three genotype advantages between the two groups of athletes difference(P>0.05). 3) The RR genotype in the young athletes group was significantly better than the XX genotype in the test results of 30 m, 60 m, 100 m, standing long jump, standing triple jump and back throwing 2 kg solid ball test(P<0.05). Conclusions: Chinese teenagers and excellent adult100 m sprinters have consistent characteristics in the genotype and allele frequency distribution of the ACTN3 gene rs1815739 polymorphic locus. The polymorphism of this locus is consistent with the speed and speed of Chinese excellent teenagers and excellent adult 100 m sprinters.There is a significant correlation between sprinters’ speed and explosive quality. The RR genotype could be used as a molecular marker for the selection of outstanding athletes in this event in China, but the sample size of outstanding athletes still needs to be expanded to further verify its scientificity and feasibility.更多还原