我国耐力运动员线粒体DNA高变区Ⅰ序列多态性分析

Sequence Polymorphisms of Mitochondrial DNA HypervariableⅠin Chinese Endurance Athletes

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 。

Objective: To investigate the association between gene marker and human athlete performance and their molecular mechanism.Methods:All subjects were Han nationality, including 95 endurance athletes and 92 normal controls. Sequence polymorphisms of mtDNA HVRⅠwas determined by polymerase chain reaction (PCR) and direct sequencing. Results: There were 83 polymorphism sites which included 68 sites of nucleotide substitution, 5 sites of deletion and 10 sites of insertions. One deletion (16228) and two insertions (16113-16114, 16335-16336) only appeared in Han nationality endurance athletes. Homoplasmic polymorphisms of mtDNA HVR were composed of nucleotide transition, nucleotide transversion, deletion and insertion. The frequency of transversion of the athletes was significantly higher than their controls (P<0.05), whereas the frequencies of deletions and insertions were significantly lower than their controls (P<0.05). The frequency of T-C transition of the athletes was significantly higher than the controls (P<0.05), whereas the frequency of A-G transition was significantly lower than that of the controls (P<0.01). Conclusion:The direct sequencing of mtDNA PCR products is a very convinient and effective method for the sequence polymorphism analysis, which is greatly significant for researching the genetic mechanism of human performance.