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目的:通过分析Ⅴ型胶原蛋白a1链(COL5A1)基因多态性与60名中国北方汉族女子专业长跑运动员机能指标的关联性,探寻预测有氧耐力表型的分子标记。方法:采用联合测试法测得无氧阈和最大摄氧量相关指标,肺功能仪测得肺功能相关指标。用PCR-RFLP分析COL5A1基因的rs13946、rs12722多态性。结果:1)rs12722位点:不同基因型运动员之间无氧阈摄氧量、无氧阈摄氧量相对值有显著性差异(P<0.05),TT型运动员显著大于CC和CT型。2)rs13946位点:该位点与有氧耐力表型以及肺功能之间无关联(P>0.05)。3)rs13946-rs12722单体型:携带TC单体型运动员的无氧阈摄氧量和无氧阈摄氧量相对值指标均显著高于非TC单体型运动员(P<0.025)。结论:1)COL5A1 rs12722 TT基因型可作为预测中国北方汉族女子长跑运动员无氧阈强度下机体氧耗量的分子遗传学标记。2)TC单体型可作为预测北方汉族女子长跑运动员无氧阈摄氧量及其相对值指标的分子遗传学标记。
OBJECTIVE: To explore molecular markers predicting aerobic endurance phenotypes by analyzing the association of the COL5A1 gene polymorphism with the functional indices of 60 Han nationality female professional long-distance runners in northern China. Methods: The combined test was used to measure the anaerobic threshold and maximum oxygen uptake, and the lung function was measured by the pulmonary function analyzer. PCR-RFLP analysis of COL5A1 gene rs13946, rs12722 polymorphism. Results: 1) The rs12722 locus: There was a significant difference in anaerobic threshold oxygen uptake between athletes of different genotypes (P <0.05). TT type athletes were significantly more than those of CC and CT. 2) rs13946 locus: There was no correlation between this locus and aerobic endurance phenotype and pulmonary function (P> 0.05). 3) rs13946-rs12722 haplotype: The relative values of anaerobic threshold oxygen uptake and anaerobic threshold oxygen uptake of TC haplotype athletes were significantly higher than those of non-TC haplotype athletes (P <0.025). Conclusions: 1) COL5A1 rs12722 TT genotype can be used as a molecular genetic marker to predict the oxygen consumption of the body under the anaerobic threshold intensity of the Han nationality female runners in northern China. 2) TC haplotype can be used as a molecular genetic marker to predict the anaerobic threshold oxygen uptake and its relative value of northern Han nationality female runners.