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目的:通过对线粒体基因(mtDNA)高变区Ⅱ(HVR-Ⅱ)作序列多态性分析,探讨与人类运动能力相关的基因标记及其分子机制。方法:受试者均为中国汉人,其中皮划艇运动员123人,举重运动员70人,对照组132人。通过特异性扩增mtDNAHVR-Ⅱ片段并测序,分析其序列多态性变化。结果与结论:中国皮划艇、举重运动员和普通汉人对照的mtDNAHVR-Ⅱ具有很高序列多样性,遗传变异性大,遗传多样性丰富。3组人群mtDNAHVR-Ⅱ同质性序列多态性无显著性差异,并具有共同特征:(1)碱基替换频率高于重排频率,碱基替换以转换为主,碱基转换中以嘌呤转换为主,嘌呤转换中以A-G频率最高;(2)重排以碱基插入为主,其中插入C频率最高,其次为CC;(3)3组人群mtDNAHVR-Ⅱ与HVR-Ⅰ具有相似的碱基替换频率。在HVR-Ⅱ中,np73位点的A-G多态性频率具有明显的种族和地域差异。
OBJECTIVE: To investigate the genetic markers related to human motor ability and its molecular mechanism by sequence polymorphism analysis of mitochondrial DNA hypervariable region Ⅱ (HVR-Ⅱ). Methods: The subjects were all Han Chinese, of which 123 were canoeists, 70 weightlifters and 132 were control subjects. The mtDNAHVR-Ⅱ fragment was amplified by specific amplification and sequenced, and its sequence polymorphism was analyzed. RESULTS AND CONCLUSION: The mtDNAHVR-II of Chinese canoeing, weightlifter and normal Han Chinese has high sequence diversity with large genetic variability and rich genetic diversity. There was no significant difference in mtDNAHVR-Ⅱ homogeneity among the three groups, which shared the following characteristics: (1) the frequency of base replacement was higher than that of rearrangement, the base substitution was mainly conversion, and the base conversion was purine (3) The mtDNAHVR-Ⅱ and HVR-Ⅰ in the three groups had the same frequency (P <0.05) Base substitution frequency. In HVR-Ⅱ, the frequency of A-G polymorphism at np73 site has obvious ethnic and regional differences.