【摘要】 为了探讨人类运动能力相关的基因标记与分子遗传学机制 ,选取汉族耐力运动员 95人 ,相应汉人对照 92人 ,对其线粒体基因高变区I(mtDNAHVRⅠ )特异性片段进行扩增、测序 ,分析其序列多态性特征。结果显示 :中国汉人及其耐力运动员mtDNAHVRⅠ总共测得 14 0个多态位点 ,其中 ,异质性多态位点 2 7个。中国汉族耐力运动员mtDNAHVRⅠ异质性多态位点 2 0个 ,位点A16 132C ,A16 135C ,C16 0 85G ,T16 14 4A ,C16 111T ,C16 10 7T ,C16 10 8T ,T16 189C为其独有。异质性多态类型主要表现为碱基转换和碱基颠换两种 ,未见碱基缺失及插入改变。运动员T -A颠换频率显著高于常人对照 (P <0 .0 1) ,而A -G转换和T -G颠换频率则显著低于常人对照 (P <0 .0 1,P<0 .0 5 )。研究结果提示 ,mtDNAHVRⅠ异质性多态特征明显区别于同质性多态改变 ,mtDNAHVRⅠ作为良好的遗传标记 ,对于人类运动能力的分子遗传学探讨有重要意义更多还原

【Abstract】 In order to investigate the association between gene marker and athlete performance and its molecular genetic mechanism in human, we analyzed the sequence polymorphisms of the mitochondrial DNA (mtDNA) hypervariable regionⅠ(HVRⅠ). All subjects were Han nationality, including 95 endurance athletes and 92 healthy controls. Sequence polymorphisms of HVRⅠwas determined by polymerase chain reaction (PCR) and direct sequencing. The results showed that there were 140 polymorphism sites which included 27 heteroplasmic polymorphism sites in all subjects. 20 heteroplasmic polymorphism sites were found out in endurance athletes. Eight sites(A16132C,A16135C, C16085G, T16144A, C16111T, C16107T,C16108T,T16189C)only appeared in Han nationality endurance athletes. Heteroplasmic polymorphisms of mtDNA HVR Ⅰ were composed of nucleotide transition and transversion. No deletion and insertion were observed.There were some difference in the frequencies of nucleotide substitution between the athletes and the controls. The frequency of T-A transversion in the athletes was significantly higher than that in controls (P< 0.01), whereas the frequencies of A-G transition and T-G transversion were significantly lower than that in controls (P < 0.01,P < 0.05). The results suggested that the mtDNA HVRⅠheteroplasmic polymorphism was significantly differecence with its homoplasmic one,and as a good gene marker, it was important for researching the genetic mechanism of human sports performance.更多还原