伊犁马ACTN3基因外显子多态性研究

doi:10.11843/j.issn.0366-6964.2018.06.023

Abstract

Abstract:

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 T9059G was the missense mutant, and the other 7 were synonymous mutants. Based on the 8 SNPs, linkage analysis showed that the strong linkage between A6206G and A11517G, 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 T9059G changed the secondary structure of ACTN3 protein. The result indicate that the T9059G is one of the improtant functional sites affecting athletic performance, which affect the secondary structure of ACTN3 protein.

Key words: Yili horse, ACTN3 gene, genetic polymorphism, bioinformatics

CLC Number:

S821.2

WANG Jian-wen, LI Lin-ling, WANG Jing-li, MENG Jun, ZENG Ya-qi, YAO Xin-kui, XIN Ya-li. Analysis on ACTN3 Gene Exon Polymorphism of Yili Horse[J]. ACTA VETERINARIA ET ZOOTECHNICA SINICA, 2018, 49(6): 1299-1306.

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Analysis on ACTN3 Gene Exon Polymorphism of Yili Horse

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