【摘要】 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与分子机制。方法:受试者均为中国汉人,其中皮划艇运动员(耐力组)123人;举重运动员(力量组)70人;普通汉人(对照组)132人。通过特异性扩增mtDNA HVR-Ⅱ片段并测序,分析其序列多态性变化。结果:三组人群的mtDNA HVR-Ⅱ中共发现27个位点存在异质多态现象,其中C317A/T/G、C330A/G和C332A/T呈现多种异质形式,C348G和T321G多态位点为皮划艇运动员独有。三组人群mtDNA HVR-Ⅱ异质性碱基替换均呈现颠换为主、转换次之的特征。耐力组和对照组mtDNA HVR-Ⅱ的碱基转换以C/T频率最高。力量组异质性碱基转换G/A频率显著高于非力量组(P<0.05),提示mtDNA异质性的多态可能与力量素质相关。更多还原

【Abstract】 The purpose of this study was to investigate the association between the gene markers and human athletic performance,as well as the molecular mechanism of the association.All subjects were of Han nationality,including 123 canoeists(endurance group),70 weightlifters(strength group) and 32 non-athletes(control group).Sequence polymorphisms of mitochondrial DNA hypervariable region Ⅱ(mtDNA HVR-Ⅱ) was determined by polymeras chain reaction(PCR) and direct sequencing.The results showed that there were 27 heteroplasmic sites in mtDNA HVR-Ⅱ in all groups.The np317,np330 and np332 had more than one heteroplasmic formats.C348G and T321G only appeared in endurance group.The heteroplasmic nucleotide substitution of all groups indicated that the frequency of transversion was higher than that of transition.In endurance and control groups,the frequency of C/T transition was higher than the frequency of other heteroplasmic nucleotide transition.The G/A transition frequency of strength group was significantly higher than that of the other two groups,which might imply that there were possible association between mtDNA heteroplasmic polymorphisms and human strength performance.更多还原