伊犁马ACTN3基因外显子多态性研究

Analysis on ACTN3 Gene Exon Polymorphism of Yili Horse

旨在鉴定新疆伊犁马ACTN3基因外显子多态位点及其单倍型,分析不同单倍型对mRNA表达量和蛋白质结构的影响,为进一步探究其基因型与运动性能的关联奠定基础。以38匹伊犁马为研究对象,通过直接测序法筛选ACTN3基因多态性位点并进行基因型分析,并通过haploview 4.2软件进行单倍型分析;利用在线软件(RNAfold和sopm)进行生物信息学分析。结果表明,在伊犁马ACTN3基因的外显子中共发现了8个多态位点,其中T9059G为错义突变,其余均为同义突变;A6206G和A11517G之间存在强的连锁,其余各突变间也存在一定程度的连锁关系;构建出的14种单倍型中,单倍型H1(GGATCCCG)为优势单倍型,各单倍型使得ACTN3基因mRNA二级结构和最小自由能发生改变,且T9059G使得蛋白质二级结构改变。结果提示,T9059G突变位点影响ACTN3蛋白质的二级结构,可能是对伊犁马运动性能产生影响的重要功能位点。

The aims of this study were to identify genetic variants and construct haplotypes of polymorphic sites of ACTN3 gene exon in Yili horse,and determine different haplotypes effects on the mRNA expression level and protein secondary stucture of ACTN3,which would provide a theoretical basis for further researching the influence of the gene expression on athletic performance.Direct sequencing was taken to detect the polymorphic sites of of ACTN3 of 38 Yili horse and analyze its genotypes.The haplotypes and bioinformation were analyzed by haploview 4.2 and online software（RNAfold and sopm）,respectively.A total of 8 SNPs were identified from the ACTN3 gene exon,only T9059 Gwas the missense mutant,and the other 7 were synonymous mutants.Based on the 8 SNPs,linkage analysis showed that the strong linkage between A6206 G and A11517 G,and the different linkage relationship among the other SNPs.There was 14 haplotypes by the 8 SNPs,H1（GGATCCCG）was the dominant haplotype,and the different haplotypes could cause the change of mRNA secondary structure and minimum free energy of ACTN3 gene.The missense mutation of T9059 Gchanged the secondary structure of ACTN3 protein.The result indicate that the T9059 Gis one of the improtant functional sites affecting athletic performance,which affect the secondary structure of ACTN3 protein.