中文摘要：

Case-Control研究表明，人线粒体基因（mtDNA）D-Loop区mt235、mt514—515、natl6183、mtl6290和mtl6319多态位点与有氧运动能力有关。拟从下游基因表达做进一步的研究，以探讨上述多态位点的分子调控机理。方法：采用全基因组合成法合成包含上述多态位点的DNA序列，分别连接到pGL3一promoter载体构建重组质粒，将重组质粒转染至293T细胞，观察携带5对mtDNA质粒对下游双荧光素酶报告基因的表达及荧光素酶mR—NA表达的影响。结果：携带rot235A、mt514—515CA、mtl6183A和mtl6319G的载体转染细胞的双荧光素酶基因表达量显著高于mt235G、mt514—515Del、mtl6183C和mtl6319A（P〈0．01）；携带mtl6290两种基因型的质粒转染细胞报告基因表达没有明显差异。与pGL3-promoter载体相比，携带mtl6319A的质粒转染细胞荧光素酶mRNA极显著下降（P〈0．01），携带mtl6290位点的两种质粒对报告基因mRNA的影响没有差异。结论：mt235、mi514—515、mtl6183和mtl6319多态位点影响荧光素酶基因表达，mt235A、rot514—515CA和mtl6183A上调基因转录和翻译，mtl6319A下调基因转录。这些基因表达上的差异可能是影响人有氧运动能力的重要调控因素。

英文摘要：

Objective ： The gene expression differences between variants of mt 235, mt 514- 515, mt16183 ,mt16290 and mt16319 correlated with enduance performance in human mtDNA D- Loop region were studied. Methods：The gene sequences contained above loci were synthesized respectively,and then constructed with pGL3-promoter vector. The vectors were transfected into 293T cells, and the expression activity and mRNA of the reporter gene in the recombinant expression vectors with different alleles were detected by a dual-luciferase reporter assay system and RT-PCR. Results： Higher relative luciferase activities were detected significantly in vectors containing mt235A, mtS14-515CA, mt16183A and mt16319G than mt235G, mt514- 515Del, mt16183C and mt16319A（P~0.01）. There was no effect for reporter gene expres- sion in vectors containing mt 16290 locus. Compared with pGL3-promoter, luciferase gene mRNA level of transfected pGL3-16319 A cell was decreased significantly, but no differences between vectors contained mt16290. Conclusion： The variation of mt235A, mt514-515CA and ml 16183 A can up-regulate the gene transcription and expression in this study, maybe affecting the gene function, mt16319A can down-regulate the gene transcription. The gene expression differences maybe are the important regulated factors.