ATP合成调控相关蛋白基因与有氧运动能力相关的分子标记研究
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摘要
本研究通过分析ATP合成调控相关蛋白基因多态性在我国长跑运动员中的分布特征,筛选与有氧运动能力相关的分子标记；通过与长跑运动员生理表型指标的关联分析,探讨基因多态性对有氧运动能力的影响；通过研究分子标记多态位点的生物功能,探讨不同基因型在表达调控上的作用。
研究一：分析PYGM、HK、PK、LDH、ACSL、IDH、OGDH、UCP28个基因27个位点多态性与有氧运动能力的关联性。结果：(1)UCP2基因3'-UTR45bp Ins/DelDD型可作为有氧运动能力的分子标记。(2)ACSL4基因rs5943427GG型；rs1324805TT型；rs5943427-rs1324805(GT)单体型可作为男子长跑运动员有氧运动能力的分子标记。(3) OGDHL基因rs1268722AA型可作为超长跑有氧运动能力的分子标记。
研究二：分析8个基因27个位点多态性与生理表型的关联性。结果：(1)IDH3B基因rs6107100与肺功能表型有关联性。(2)PYGM基因rs490980; IDH3B基因rs6107100-rs2073193单体型；HK4基因rs3757840; PK基因rs2071053、rs1052176、rs3762272、rs8847及单体型；ACSL5基因rs2419621、rs11195938、 rs8624与有氧运动能力表型有关联性。(3)PYGM基因rs589691, rs490980-rs589691单体型；IDH3B基因rs6107100-rs2073193单体型；OGDHL基因rs1268722;HKl基因rs702268;HK2基因rs681900;ACSL5基因rs2419621、 rs11195938、rs8624与身体成分表型有关联性。
研究三：利用分子生物学方法研究与有氧运动能力相关的UCP2基因3'-UTR45bp Ins/Del不同基因型对表达活性的影响。结果：该位点是一个功能型有氧运动能力的分子标记,DD型重组载体报告基因相对活性显著高于Ⅱ型,其生物学活性在于不同基因型能影响UCP2基因表达活性。
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.
研究一：分析PYGM、HK、PK、LDH、ACSL、IDH、OGDH、UCP28个基因27个位点多态性与有氧运动能力的关联性。结果：(1)UCP2基因3'-UTR45bp Ins/DelDD型可作为有氧运动能力的分子标记。(2)ACSL4基因rs5943427GG型；rs1324805TT型；rs5943427-rs1324805(GT)单体型可作为男子长跑运动员有氧运动能力的分子标记。(3) OGDHL基因rs1268722AA型可作为超长跑有氧运动能力的分子标记。
研究二：分析8个基因27个位点多态性与生理表型的关联性。结果：(1)IDH3B基因rs6107100与肺功能表型有关联性。(2)PYGM基因rs490980; IDH3B基因rs6107100-rs2073193单体型；HK4基因rs3757840; PK基因rs2071053、rs1052176、rs3762272、rs8847及单体型；ACSL5基因rs2419621、rs11195938、 rs8624与有氧运动能力表型有关联性。(3)PYGM基因rs589691, rs490980-rs589691单体型；IDH3B基因rs6107100-rs2073193单体型；OGDHL基因rs1268722;HKl基因rs702268;HK2基因rs681900;ACSL5基因rs2419621、 rs11195938、rs8624与身体成分表型有关联性。
研究三：利用分子生物学方法研究与有氧运动能力相关的UCP2基因3'-UTR45bp Ins/Del不同基因型对表达活性的影响。结果：该位点是一个功能型有氧运动能力的分子标记,DD型重组载体报告基因相对活性显著高于Ⅱ型,其生物学活性在于不同基因型能影响UCP2基因表达活性。
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.
引文
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