【作者】 尚旭亚；

【导师】 黄昌林；

【作者基本信息】 第四军医大学 ， 外科学， 2008， 硕士

【摘要】 引言:不同人种的人和不同的个体在运动能力上存在差异这一点已经没有人质疑。近年来的人类遗传学的研究结果证实,人类体能差异有遗传基础[1],杰出运动能力具有较高的遗传度。研究证实人类最大有氧能力的遗传度为25%-90%。随着现代分子生物学技术的发展,对运动员科学选材的研究已深入到了分子遗传学领域。这些研究将给运动员选材工作开辟一个新的途径。在优秀运动员的选材中加进基因指标,将会使选材工作更趋科学和准确。人类基因多态性的研究给体能研究带来革命性的影响。通过基因多态性这一“战略性”研究,我们可以运用于军事医学研究中,提高特种兵科学选材工作的质量,制定出具有真正意义的个性化训练方案,更好地预防训练伤的发生。与体能素质有关的基因研究有:与耐力相关的ACE、mtDNA、α2A肾上腺素受体、PGC-1α等重要基因;与力量有关的基因GDF8、VDR,CNTF;与速度有关的基因ACTN3(辅肌动蛋白3)等。本实验选择了其中的三种基因,这三种基因分别与个体的速度素质、耐力素质和力量素质可能相关,应用荧光PCR技术进行初步分析,以此从不同角度对体能素质的遗传机制进行探索。目的:研究中国汉族男性军人α-辅肌动蛋白3基因(ACTN3)遗传多态性特点及其与速度素质的相关性。探讨中国汉族男性军人α2A肾上腺素能受体基因(ADRA2A)的遗传多态性特点及其与耐力素质的相关性。探讨中国汉族男性军人睫状神经营养因子基因(CNTF)遗传多态性特点,以及CNTF基因多态性与力量素质的相关性。方法:113名无训练史的汉族健康男性军人进行18周短跑训练,测试训练后的百米成绩。用荧光定量PCR法分析ACTN3基因的多态性。108名无训练史的汉族健康男性军人进行18周的有氧耐力训练,测试训练后5 000m跑的成绩。DNA测序分析ADRA2A基因的G6412C、T6623A、C6645C三个位点的多态性。105名无训练史的汉族健康男性军人进行18周常规新兵入伍力量性训练,测试训练后的握力体重指数。用荧光定量PCR法分析CNTF基因的多态性,分析握力体重指数与基因多态性的关系。结果:1.ACTN3基因C1747G多态位点分布频率符合Hardy-Weinberg平衡,且C/T、C/C基因型显著性多于T/T基因型(P<0.05),但其多态性分布特征与欧洲白种男性比较无显著性差异(P>0.05)。ACTN3基因多态性与速度素质有相关性,T/T纯合型速度素质优于C/C、C/T型。2.ADRA2A基因3个多态位点的基因分布频率均符合Hardy-Weinberg平衡。位点T6623A多态性与耐力素质相关,A/A基因型耐力素质显著性高于A/G基因型(P<0.05),G/G基因型和A/G、A/A基因型的耐力素质无显著性差异(P>0.05)。未发现G6412C、C6645C单点多态性与耐力素质有明显的相关性。3.CNTF基因的多态位点分布频率符合Hardy- Weinberg平衡, CNTF基因的多态性的分布特征中国汉族男性与中国汉族女性差异显著(P<0.05),与欧美研究的白种男性无显著的种族差异(P>0.05),G/G基因型群体显著性多于A/G、A/A。CNTF多态性与力量素质未见显著性相关性(P=0.16)。结论:①ACTN3基因多态性可作为预测个体速度素质的基因标记。②ADRA2A基因位点T6623A多态性可作为中国汉族男性青年个体耐力素质的基因标记,而位点G6412C和C6645C多态性不是预测个体耐力素质的基因标记。③CNTF基因从种族单一性、样本数量和年龄段的选择等因素考虑,研究结果可以作为中国汉族男性军人CNTF基因A/G多态频率分布的代表。CNTF基因的多态性不能做为中国汉族男性预测个体力量素质的基因标记。更多还原

【Abstract】 Introduction: The person of different human race and different individual is difference in the exercise ability which already no one query. In recent years, it is confirmed that mankind’s exercise ability difference contains the heredity foundation by the research result of mankind’s genetics.The genetics research expresses that the outstanding sport ability has a higher heredity degree. The research confirms that the biggest oxygen ability of mankind have the heredity degree of 25%-90%.Along with modern molecular biology technical development, the research of choosing athlete member that have already went deep into genetics realm. These researches will develop a new path for the work of choosing athlete. Adding into the gene index sign in the choosing excellent athlete, which will gradually make it science and accurate in choosing work. Mankind’s gene polymorphism researches bring revolution influence in the physique research. Passing this "strategic" research of polymorphism of gene, we can be make use of in the military medical science research, raise the quality in choosing the special kind soldier’s work, draw up a project to have real meaning of characteristic training, prevent the occurrence of the training wound better. There have some genes having something to do with the exercise character , the gene CNTF,ACE,mtDNA,PGC-1αetc have related to endurance, the gene GDF8,VDR has something to do with strength, the gene ACTN has relation with speed. This experiment chooses among them of three kinds of genes, the application of fluorescence PCR technique carries on initial analysis. These three kinds of gene have related to speed, endurance and strength of individual respectively , try to explore the heredity about the exercise character in many angles.Objective:To explore the characteristics of polymorphisms in ACTN gene phenotypes and their relationship to the speed capacity in PLA servicemen of the Han nationality. To explore the characteristics of polymorphisms in ADRA2A gene phenotypes and their relationship to the aerobic training in PLA servicemen of the Han nationality . To explore the characteristics of polymorphisms in the CNTF gene phenotypes and their relationship to the muscular capacity in Han nationality servicemen in PLA .Methods:One hundred and thirteen healthy PLA recruit of the Han nationality in China underwent a 100-meter sprint convention training program for 18 weeks, and then got a test of 100-meter running. The ACTN3 allelic variant and genotype was analyzed by Q-PCR. The relation between the result of 100-meter sprint and the polymorphisms of ACTN3 .One hundred and eight healthy PLA recruit of the Han nationality in China underwent a 5000-meter racing convention training program for 18 weeks, and then got a test of 5000-meter racing. The ADRA2A allelic variant and genotype was analyzed by polymerase chain reaction and sequencing, the characteristics of polymorphisms in three sites of G6412C、T6623A and C6645C were determined with biochemical technique. The relation between the result of 5000-meter racing and the polymorphisms of ADRA2A .One hundred and five healthy PLA recruit of the Han nationality in China were recruited to undergo convention training program for 18 weeks, and to examine grasp-force/weight index. The CNTF allelic variant and genotype was analyzed by Q-PCR. The relation between the result of grasp-force/weight and the polymorphisms of CNTF .Results:1.Genotype of ACTN3 C1747G distributions was consistent with Hardy-Weinberg equilibrium at this loci .The genotype frequencies of C/T,C/C,T/T were 43%,40%,17%,respectively.The allele frequencies of C and T were 62% and 38%. There was not significant difference in frequency distribution of ACTN3 polymorphism between Han nationality and European white men (P>0.05). The speed of 100-meter running of recruits carrying T/T (12.98±0.65s) was significantly faster than that of those carrying C/T (13.45±0.78s, P<0.05) and C/C (13.50±0.86s, P<0.05) .2.Genotype distributions at all the three locations were consistent with Hardy-Weinberg equilibrium. The genotype frequencies in T6623A of A/G(50%) was higher than that of G/G(26%) and A/A(24%).The allele frequencies of A(51%) was higher than that of G (49%). The 5000-meter racing time of recruits carrying G/G (20.95±0.82min) was significantly longer than that of those carrying A/A (18.97±0.65min, P<0.05) . The 5000-meter racing time of recruits carrying G/G (20.21±0.73min) had no significant difference compare with that of those carrying A/A and A/G. There was not significant association between the aerobic capacity and the polymorphism of G6412 and C6645C.3.Genotype of CNTF distributions was consistent with Hardy-Weinberg equilibrium at this loci . There was significant difference in sex in China(P<0.05), There was not significant difference in frequency distribution of CNTF polymorphism between Han nationality and European white men (P>0.05).And men carrying G/G were at higher level than that carrying A/A and A/G. A significant difference in muscular capacity across genotypes was not observed at CNTF (P=0.16).Conclusions:①The C1747G site of ACTN3 was a gene maker for predicting speed capacity.②The T6623A of ADRA2A was the ideal gene maker for predicting endurance capacity ,but G6412C and C6645C was not.③This research concluded that in consideration of the factors of racial difference,limited samples and age,this research can be the representative of frequency distribution of CNTF polymorphisms of group of Chinese Han people.It was suggested that the CNTF was not gene markers for predicting muscular capacity.更多还原