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为了探讨人类有氧耐力相关的基因标记与分子机制,本研究对线粒体基因(mtDNA)高变区Ⅱ(HVR-Ⅱ)作了序列多态性分析。所有受试者均为汉人,分为3组:耐力组123人,选自国家皮划艇集训队;力量组70人,选自国家举重集训队,作为项目对照;对照组132人选自年龄、地域相当的大学生,作为常人对照。通过特异性扩增mtDNAHVR-Ⅱ片段、测序,分析多态性,寻找不同基因型在三组人群中的分布差异。结果显示:在受试者的HVR-Ⅱ片段中,共检测到81个变异位点,平均每3.9个碱基就有一个变异位点。在一些重要功能区也不乏多态性位点分布,其中的部分位点多态性频率在10%以上。耐力组在np303-np309(携带C9)、np310(缺失T)、np320(携带T)和np332(携带A)位点多态性显著高于对照组和力量组(P<0.05)。结果提示:mtDNAHVR-Ⅱ功能区序列并非十分保守,部分位点多态性频率相当高。np303-np309(携带C9)、np310(缺失T)、np320(携带T)和np332(携带A)位点多态性有可能成为人类有氧耐力的相关基因标记。
In order to explore the genetic markers and molecular mechanisms of aerobic endurance in humans, we analyzed the polymorphism of mtDNA hypervariable region Ⅱ (HVR-Ⅱ). All subjects were Han Chinese, divided into 3 groups: 123 endurance group, selected from the national canoe training team; strength group of 70 people, selected from the national weightlifting training team, as a project control; control group of 132 selected from the age University students, as a normal control. Through the specific amplification of mtDNAHVR-Ⅱ fragment, sequencing, analysis of polymorphisms, looking for different genotype distribution in three groups of people. The results showed that in the HVR-Ⅱ fragment of the subjects, a total of 81 mutation sites were detected, with an average of every 3.9 bases. There are also some polymorphic loci in some important functional areas, some of which have more than 10% polymorphism. The endurance group had significantly higher polymorphism in np303-np309 (carrying C9), np310 (deletion T), np320 (carrying T) and np332 (carrying A) locus than those in control group and power group (P <0.05). The results suggest that the sequence of mtDNAHVR-Ⅱ functional region is not very conservative, and the frequency of some locus polymorphisms is quite high. It is possible that np303-np309 (carrying C9), np310 (deletion T), np320 (carrying T) and np332 (carrying A) polymorphisms may become relevant genetic markers of human aerobic endurance.