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目的:探讨胰岛素样生长因子1(insulin-like growth factor1,IGF1)基因单核苷酸多态性(SNP)与埃及水牛生长性状的关联性。创新点:发现IGF1基因多态性对埃及水牛的生长性状、血液生化指标和基因表达有显著影响,并为埃及水牛的选育提供重要的分子遗传标记。方法:以200头埃及水牛为试验对象,对其IGF1基因的多态性进行检测,并分析其与生长性状、血液生理生化指标和基因表达的相关性。结论:在水牛IGF1基因多态性分析中,发现两个新的SNP位点(G64A和G280A)分别分布在外显子1和外显子4的非编码区。不同基因型的统计分析表明,G64A和G280A位点的GG基因型水牛个体分别在3~6月龄和6~9月龄的体重(BW)和平均日增重(ADG)均显著高于其他基因型(P<0.05)。这两个SNPs位点的组合基因型产生了三种单倍体GG/GG、AG/AG和AA/AA。在3~12月龄的水牛个体中,单倍体基因型与BW和ADG存在显著关联(P<0.0001)。纯合的GG/GG单倍体基因型水牛生长性能优于其他水牛。两个SNP位点与半腱肌中IGF1和IGF1R的mRNA水平以及IGF1血清浓度水平相关。此外,GG/GG单倍体水牛表现出较高的mRNA和血清浓度水平。综上所述,这两种SNP位点G64A和G280A可作为埃及水牛生长性状选育的重要分子遗传标记。
Objective: To investigate the association of single nucleotide polymorphism (SNP) of insulin-like growth factor 1 (IGF1) gene and growth traits of Egyptian buffalo. Innovative point: IGF1 gene polymorphism was found to have significant effects on growth traits, blood biochemical markers and gene expression in Egyptian buffalos, and provided important molecular genetic markers for the breeding of Egyptian buffaloes. Methods: 200 Egyptian buffalos were used as test subjects to detect the polymorphism of IGF1 gene, and to analyze its correlation with growth traits, blood physiological and biochemical indexes and gene expression. Conclusion: In the analysis of buffalo IGF1 gene polymorphism, two novel SNP sites (G64A and G280A) were found in the noncoding regions of exon 1 and exon 4, respectively. Statistical analysis of different genotypes showed that the body weight (BW) and average daily gain (ADG) of GG genotype buffaloes at G64A and G280A loci were significantly higher than those at other ages ranging from 3 to 6 months and from 6 to 9 months Genotype (P <0.05). The combined genotype of these two SNPs generated three haplotypes GG / GG, AG / AG and AA / AA. In buffalos individuals aged 3 to 12 months, there was a significant association between haploid genotypes and BW and ADG (P <0.0001). Homozygous GG / GG haploid genotype buffalo grow better than other buffaloes. The two SNP loci correlate with the mRNA levels of IGF1 and IGF1R in the semitendinosus and IGF1 serum concentrations. In addition, GG / GG haploid buffalo showed higher mRNA and serum concentration levels. In summary, the two SNP sites G64A and G280A can be used as important molecular genetic markers for breeding buffalo growth traits.