为了探索槐山羊KMT2E基因单核苷酸多态性(SNP)位点与产羔数之间的关系,试验以不同产羔数的槐山羊群体为对象,采用DNA测序方法对KMT2E基因的SNP位点进行筛选,并将SNP位点与槐山羊产羔数进行关联分析。结果表明:在 KMT2E 基因中发现 g。74006387 C>A 和 g。74006801 A>T 两个 SNPs 位点,各检测到 3 种基因型,g。74006387 C>A 位点基因型为 AC 型、CC 型和 AA 型,g。74006801 A>T 位点基因型为 AA 型、TT 型和 AT 型。g。74006387 C>A位点C为优势等位基因,等位基因频率为 0。750 0;g。74006801 A>T位点T为优势等位基因,等位基因频率为 0。721 3。两个突变位点杂合度较高,均处于中间多态性,且处于Hardy-Weinberg不平衡状态。连锁不平衡分析发现,两个SNPs位点之间属于弱连锁不平衡状态(D'<0。8,r2<0。33)。突变后,mRNA二级结构发生改变,自由能由-8。06×106 J/mol升高至-8。05×106 J/mol;g。74006387 C>A位点和g。74006801 A>T位点的不同基因型与产羔数相关性均不显著(P>0。05)。说明槐山羊KMT2E基因的g。74006387 C>A和g。74006801 A>T位点均不适合作为槐山羊高繁殖性状的分子标记。
Correlation analysis between KMT2E gene mutation and lambing traits in Huai goats
To explore the relationship between the single nucleotide polymorphism(SNP)of KMT2E gene and the lambing numbers in Huai goats,Huai goat populations with different litter size were selected as the object in this study.DNA sequencing technology was applied to screen the SNP sites of KMT2E gene.The correlation between KMT2E gene and lambing number were analyzed.The results showed that two polymorphic loci,g.74006387 C>A and g.74006801 A>T were found in the KMT2E gene.Three genotypes were detected at each locus.The genotypes of g.74006387 C>A locus were AC,CC and AA,and the genotypes of g.74006801 A>T locus were AA,TT and AT.C at g.74006387 C>A locus was the dominant allele,and the allele frequency was 0.750 0.T at g.74006801 A>T locus was the dominant allele,and the allele frequency was 0.721 3.The heterozygosity of the two mutation sites was high,both of which were in intermediate polymorphism and in Hardy-Weinberg imbalance state.Linkage disequilibrium analysis showed that the two SNPs sites belonged to a weak linkage disequilibrium(D'<0.8,r2<0.33).After mutation,the mRNA secondary structure changed,and the free energy increased from-8.06×106 J/mol to-8.05×106 J/mol.The results of association analysis showed that there were no significant differences in the number of lambs and genotype of g.74006387 C>A and g.74006801 A>T loci(P>0.05).The results of this study indicated that the g.74006387 C>A and g.74006801 A>T loci of KMT2E gene in Huai goats were not suitable for molecular markers of multiple lambing traits in Huai goats.