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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mtDNA高变区I作了序列多态性分析。研究选取汉族耐力运动员 95人 ,相应汉人对照 92人 ,对其mtDNA高变区I特异性片段进行扩增、测序 ,分析其序列多态性改变。结果显示 :中国汉族耐力运动员的多态位点有 83个 ,其中 ,碱基替换位点 6 8,缺失位点 5个 ,插入位点 10个 ,位点 16 2 2 8碱基缺失及 16 113- 16 114和 16 335 -16 336碱基插入为运动员独有 ;中国汉族运动员mtDNA高变区I同质性多态主要表现为碱基转换、碱基颠换、缺失及插入四种类型 ,其中 ,碱基转换发生率最高 ,碱基颠换发生率次之 ,碱基缺失及插入频率最低。运动员碱基颠换频率明显高于常人 (P <0 0 5 ) ,而碱基缺失及插入频率则显著低于常人 (P <0 0 5 )。运动员T -C转换频率显著高于常人 (P <0 0 5 ) ,运动员A -G转换频率则显著低于常人 (P <0 0 1)。研究结果还提示 ,mtDNA扩增产物直接测序分析作为一种简便快捷的mtD NA序列多态性和单核苷酸多态性研究方法 ,为运动能力遗传标记的筛选与研究提供了有效方法 ,具有较好应用前景
In order to explore the genetic markers and molecular mechanisms related to human motor ability, a sequence polymorphism analysis of mtDNA hypervariable region I was performed. Ninety-five Han nationality endurance athletes and 92 corresponding Han Chinese were selected to amplify and sequence specific fragment of mtDNA hypervariable region I. The sequence polymorphism was analyzed. The results showed that there were 83 polymorphic loci in Chinese Han nationality endurance athletes, of which 6 8 were base substitution sites, 5 were deletion sites, 10 were inserted sites, 16 2 2 8 base deletions and 16 113 - 16 114 and 16 335 -16 336 base insertions were unique to athletes. The polymorphisms of mtDNA hypervariable region I in Chinese Han nationality athletes mainly showed four types of base conversion, base transversion, deletion and insertion , The highest incidence of base conversion, followed by the occurrence of base transversion, base deletion and insertion frequency of the lowest. The frequency of base transversion was significantly higher in athletes than in normal people (P <0.05), while the frequency of base deletion and insertion was significantly lower than that in normal people (P <0.05). Athletes T-C conversion frequency was significantly higher than the average (P <0 05), athletes A-G conversion frequency was significantly lower than the normal (P 0 01). The results also suggested that the direct sequencing analysis of mtDNA amplification products as a simple and quick method for mtD NA sequence polymorphism and single nucleotide polymorphism, genetic markers for exercise capacity screening and research provides an effective method, with Better application prospects