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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。
OBJECTIVE: To investigate the genetic markers and molecular mechanisms related to human motor ability by analyzing the polymorphisms of mtDNA hypervariable region Ⅱ (HVR-Ⅱ). Methods: The subjects were Chinese, including 123 canoeists (endurance group), 70 weightlifters (power group) and 132 normal Han people (control group). The mtDNA HVR-Ⅱ fragment was amplified and sequenced to analyze the sequence polymorphism. Results: Totally 27 polymorphic loci were found in mtDNA HVR-Ⅱ among the three groups. Among them, C317A / T / G, C330A / G and C332A / T showed heterogeneous forms, with polymorphisms of C348G and T321G The point is unique to canoeists. Three groups of people mtDNA HVR-Ⅱ heterogeneous base substitutions are characterized by transversion-based, followed by conversion. The base conversion of mtDNA HVR-Ⅱ in endurance group and control group showed the highest C / T frequency. Heterogeneous power conversion group G / A frequency was significantly higher than the non-power group (P <0.05), suggesting that mtDNA heterogeneity polymorphism may be related to strength and quality.