伊犁马COMT基因第1外显子多态性及其与心率的关联性

doi:10.6048/j.issn.1001-4330.2018.06.018

摘要/Abstract

摘要： 【目的】 研究伊犁马COMT基因第1外显子的多态性及其构建的单倍型,并分析不同基因型、单倍型组合与心率之间的关联程度,为研究COMT基因对马匹气质及生产性能的影响奠定前期基础。【方法】以35匹伊犁马为研究对象,采用酚—氯仿法、DNA测序等技术分析COMT第1外显子基因多态性位点及基因型,通过haploview 4.2 软件构建单倍型,采集马匹心率,并对其与不同基因型、单倍型组合进行关联分析。【结果】伊犁马COMT基因第1外显子中共发现8个突变位点,其中SNP1、SNP2、SNP4、SNP5、SNP7和SNP8为错意突变;除SNP7与其余各突变间均无较强连锁外,SNP1-6、SNP8均存在一定的强连锁关系,SNP1和SNP4完全连锁;构建出9种单倍型,其中H1为优势单倍型;进行不同 SNPs位点及单倍型组合与心率的关联分析发现SNP3和SNP5不同基因型在温和刺激心率上存在显著或极显著性差异(P<0.01或P<0.05),SNP2、SNP5、SNP6、SNP7和SNP8不同基因型在剧烈刺激心率上均有显著或极显著性差异(P<0.01或P<0.05),单倍型组合H1H2在剧烈刺激心率上显著性大于H1H3。【结论】伊犁马COMT第1外显子上存在多态性,且不同突变间存在一定程度的强连锁,不同基因型、单倍型组合个体在心率上存在差异,提示COMT基因可能是对伊犁马气质和生产性能影响的重要功能基因。

关键词: 伊犁马; COMT基因; 遗传多态性; 心率

Abstract: 【Objective】 To study the polymorphism of exon 1 of COMT gene and the haplotypes constructed in Yili horse, and analyze the correlation between different genotypes, haplotype combinations and heart rate, which might provide a preliminary foundation for further exploring the effect of COMT gene on horse temperament and production performance. 【Method】35 Yili horses were chosen as the research objects and their polymorphic and genotypes of COMT gene exon 1 was analyzed by using phenol-chloroform method, DNA sequencing and other techniques. And the haploview 4.2 software was used to construct the haplotypes. Then the horse heart rate was collected, and its association with different genotypes and haplotypes was analyzed.【Result】Eight mutations were found in COMT gene exon 1, of which SNP1, SNP2, SNP4, SNP5, SNP7, and SNP8 were missense mutations. SNP1 and SNP4 were completely linked and a total of 9 haplotypes were constructed, of which H1 was dominant haplotype. The correlation analysis of different SNPs loci and haplotype combinations with heart rate showed that different genotypes of SNP3 and SNP5 had significant or extremely significant differences in mildly stimulated heart rate (P<0.01 or P<0.05). Different genotypes of SNP2, SNP5, SNP6, SNP7, and SNP8 had significant or extremely significant differences in intensely stimulated heart rate (P<0.01 or P<0.05). Haplotype combination H1H2 was more significant than H1H3 in strenuous stimulation.【Conclusion】There was a polymorphism in the COMT gene exon 1 in Yili horse and a strong degree of linkage between different mutations and there were differences in heart rate between individuals with different genotypes and haplotypes, suggesting that the COMT gene may be an important functional gene affecting the temperament and production performance of Yili horse.

Key words: Yili horse; COMT gene; genetic polymorphism; heart rate

中图分类号:

:S821.2

辛雅莉, 王建文, 曾亚琦, 姚新奎, 孟军, 王菊花. 伊犁马COMT基因第1外显子多态性及其与心率的关联性[J]. 新疆农业科学, 2018, 55(6): 1144-1153.

XIN Ya-li¹, WANG Jian-wen^1,2, ZENG Ya-qi^1,2, YAO Xin-kui^1,2, MENG Jun^1,2, WANG Ju-hua¹. Polymorphism of COMT Gene Exon 1 and Its Association with Heart Rate in Yili Horse[J]. Xinjiang Agricultural Sciences, 2018, 55(6): 1144-1153.

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