ACTN3 R577X基因多态性与北方大学生运动能力的关联研究

Study on Association Between ACTN3 R577X Gene Polymorphism and Exercise Capacity

目的:R577X错义基因多态性可引起ACTN3基因中577位的精氨酸(R)转化为终止密码子(X)。结合ACTN3的生物学研究,我们推测ACTN3的R577X基因多态会影响人群的运动能力。方法:采用PCR产物限制性内切酶的方法,我们对384名中国北方汉族大学生的ACTN3的R577X基因多态进行分型研究。同时,结合研究对象的各项运动能力评分,分析R577X基因多态对人群运动能力的影响。结果:研究对象的ACTN3的R577X基因型分布均符合Hardy-Weinberg平衡定律,不存在选择偏倚。受试者基因型分布结果(RR-22.04%;RX-53.17%;XX-24.79%)。在运动能力关联分析中,我们发现只有50m短跑运动能力在ACTN3 R577X各组基因型中分布存在显著差异(P=0.004),其他各组运动能力与ACTN3 R577X基因型分布不存在相关性。结论:ACTN3 R577X基因可影响人群的短跑运动能力,携带RR和RX基因型人群具有更好的短跑速度。

Purpose:R577X missense polymorphism can cause the conversion of 577 site arginine(R)in the ACTN3 gene to the stop codon(X).In combination with the biological studies of ACTN3,we hypothesized that the polymorphism of ACTN3 gene in R577X may affect the exercise ability of the population.Methods:The R577X polymorphism of ACTN3 gene in 384 Han Chinese university students in northern China was detected by PCR restriction enzyme assay.At the same time,the effects of R577X gene polymorphism on the exercise ability of the subjects were analyzed with various motor ability score of the subjects.Results:The distribution of R577X genotype of ACTN3 in the study was consistent with the Hardy-Weinberg equilibrium law,there was no selection bias.Results of genotype distribution of subjects showed that RR-22.04%,RX-53.17%and XX-24.79%.In the correlation analysis of exercise ability,we found only 50 meters sprint ability there were significant differences in the distribution of ACTN3 genotypes in R577X group(P=0.004),and which was no significant difference in other exercise ability items.Conclusion:The ACTN3 R577X gene can affect the population’s ability of sprint exercise,and the RR and RX genotypes have better sprint speed.