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为了探讨人类运动能力相关的基因标记与分子机制,对线粒体基因(mt DNA)高变区I作了序列多态性分析。研究选取汉族耐力运动员94人,相应汉族对照92人,对其mt DNA高变区I特异性片段进行扩增、测序,分析其单核苷酸多态性(SNPs)改变及其与最大有氧能力的相关性。结果显示我国汉族及其耐力运动员mt DNA HVR- I多态频率大于10 %的19个SNPs位点中,运动员有3个SNPs位点与最大摄氧量关联(np16 2 97、np16 36 2、np16 0 85 ) ,其中,位点16 36 2和16 0 85剑桥序列女性VO2 max/ kg均显著高于非剑桥序列组(P<0 .0 5 ) ;位点16 2 97剑桥序列组男性的VO2 max/ kg也显著高于非剑桥序列组(P<0 .0 5 )。结果提示,mt DNA高变区ISNPs位点16 36 2 ,16 0 85和16 2 97可能作为对人类运动能力的遗传标记,决定了个体有氧耐力水平及其对训练高敏感性。
In order to explore the genetic markers and molecular mechanisms involved in human motor ability, sequence polymorphism analysis of the mt DNA hypervariable region I was performed. In this study, 94 Han nationality endurance athletes and 92 corresponding Han nationalities were enrolled in this study. The specific fragment of mt DNA hypervariable region I was amplified and sequenced. The single nucleotide polymorphisms (SNPs) Relevance of competencies. The results showed that among the 19 SNPs loci with mtDNA HVR-I polymorphism frequencies of more than 10% in Han and its endurance athletes, there were 3 SNPs loci associated with maximal oxygen uptake (np16 2 97, np16 36 2, np 16 0 85). Among them, the VO2 max / kg of women with Cambridge sequence at 16 36 2 and 16 0 85 were significantly higher than those of non-Cambridge (P <0.05) VO2 max / kg was significantly higher than that of non-Cambridge group (P <0.05). The results suggest that the 16 36 2, 16 0 85 and 16 2 97 ISNPs sites in hypervariable region of mt DNA may serve as genetic markers of human exercise capacity, which determine the individual aerobic endurance level and its high sensitivity to training.