Screen And Function Analysis Of Aerobic Performance Associated Molecular Markers In Genes Relavant To Proteins Regulating ATP Synthesis

In this study, the molecular markers associated with long-distance running ability were screened through analyzing the distribution of the prwieins regulating ATP synthesis genes’polymorphisms in China long-distance runners. The roles of molecular markers in aerobic endurance capability were screened through analyzing the relationship between genotypes and physiological phenotypes in long-distance runners. lo clarify the function of different allele contributing to gene expression, the biological function of polymorphisms loci was investigated. It may provide experimental evidence for evaluate the association of molecular markers and aerobic endurance capability.Part Ⅰ:Genetic distribution for27locos of PYGM、HK、PK, LDH、ACSL、 IDH、OGDH and UCP2genes in long-distance runners and controls were determined based on MALDI-TOF. The association of gene locus and long distance running ability was analyzed. The results showed,(1) For UCP2gene, the DD genotype (3’-UTR45bp Ins/Del) may serve as molecular marker of elite long distance runners.(2) ACSL4gene GG genotype (rs5943427), TT genotype (rs1324805), GT haplotye (rs5943427-rs1324805) may be used as molecular marker of elite male long distance runners.(3) OGDHL gene AA genotype (rs1268722) could be molecular markers of elite marathon long distance runners.Part Ⅱ:27locos of PYGM、HK、PK, LDH、ACSL、IDH、OGDH and UCP2genes in long-distance runners were determined by MALDI-TOF. The relativity between gene locus and the physiological phenotypes were analyzed. The results showed,(1)IDH3B (rs6107100) was associated with lung function phenotype.(2) PYGM (rs490980), IDH3B haplotype (rs6107100-rs2073193), HK4(rs3757840), PK (rs2071053, rs1052176, rs3762272, rs8847) genotypes and haplotype, ACSL5(rs2419621, rs11195938, rs8624) were associated with aerobic endurance capability phenotypes.(3) PYGM (rs589691) and (rs490980-rs589691) haplotype, IDH3B (rs6107100-rs2073193) haplotype, DHL (rs1268722), HK1(rs702268), HK2(rs681900) and ACSL5(rs2419621, rs11195938, rs8624) were associated with body composition phenotypes. Part Ⅲ:The molecular biological methods such as gene recombination and cell transfection were used to investigate the effects of different genotype in UCP23’-UTR45bp Ins/Del polymorphic site contributes to the expression activity of reporter gene. The polymorphic site was a functional molecular marker of aerobic endurance capability in previous research. The results showed, the biological activity of this site was that different genotype could influence the activity of UCP2gene expression.