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为了探讨人类运动能力相关的基因标记与分子机制 ,对线粒体基因 (mtDNA)高变区Ⅰ作了序列多态性分析。研究选取汉族耐力运动员 94人 ,相应汉人对照 92人 ,对其mtDNA高变区Ⅰ特异性片段进行扩增、测序 ,分析其单核苷酸多态性 (SNPs)改变 ,并对不同人群mtDNA高度区Ⅰ的基因多态性特点作了比较。结果显示 :中国汉族耐力运动员mtDNA高变区Ⅰ同质性SNPs频率大于 10 %的位点有 13个 ,大于 2 0 %的位点有 5个 ,属常见SNPs。C16 2 2 3T和T16 36 2C两个位点发生明显的同质性多态 ,其多态性频率明显高于其他SNP位点 (80 30 % ,4 7 6 2 % )。中国汉族耐力运动员mtDNA高变区Ⅰ异质性SNPs频率大于 10 %的位点有 4个 ,所有异质性多态频率均小于 2 0 % ,属稀有SNPs。位点C16 16 7A和C16 0 85G为运动员特有 ,位点T16 12 4A多态频率分布在汉族耐力运动员显著高于汉人对照 (P <0 .0 1)。结果提示 ,mtDNA高变区ⅠSNPs位点C16 16 7A、C16 0 85G及T16 12 4A可能成为人类运动能力相关的基因标记。不同人群间mtDNA高变区ⅠSNP存在明显差异 ,相关的基因标记可能也存有差异。
In order to explore the genetic markers and molecular mechanisms involved in human motor ability, sequence polymorphism analysis of mtDNA hypervariable region Ⅰ was performed. A total of 94 Han nationality endurance athletes and 92 corresponding Han Chinese were enrolled in this study. The specific fragments of mtDNA hypervariable region Ⅰ were amplified, sequenced and their single nucleotide polymorphisms (SNPs) were analyzed. The mtDNA Region Ⅰ gene polymorphism characteristics were compared. The results showed that there were 13 loci with more than 10% homology SNPs in mtDNA hypervariability region of Chinese Han nationality endurance athletes, and 5 loci with more than 20% loci, which were common SNPs. Significant homozygous polymorphism was found in C16 2 2 3T and T16 36 2C, and the polymorphism frequency was significantly higher than other SNP sites (80 30%, 47 6 2%). Han nationality endurance athletes mtDNA hypervariable region Ⅰ heterozygous heterozygous SNPs frequency of more than 10% of the sites 4, all heterogeneous polymorphic frequencies were less than 20%, is a rare SNPs. Locus C16 16 7A and C16 0 85G were unique to athletes. Locus T16 12 4A polymorphism was significantly higher in Han nationality endurance athletes than in Han controls (P <0.01). The results suggest that the SNPs of mtDNA hypervariable region Ⅰ C16 16 7A, C16 0 85G and T16 12 4A may be human gene expression markers related to exercise capacity. Different groups of mtDNA hypervariable region Ⅰ SNP there is a significant difference, the relevant genetic markers may also exist differences.