本研究旨在利用全基因组关联分析方法(genome-wide association studies,GWAS)挖掘影响绵羊体重性状的遗传标记和功能基因。采用Illumina OvineSNP50BeadChip中密度商业化羊芯片,对3个品种(苏尼特羊、德国肉用美利奴羊和杜泊羊)共计329只绵羊的体重性状(初生重、断奶重、6月龄重、断奶前日增重、断奶后日增重、日增重)进行GWAS分析。统计分析和基因注释基于TASSEL软件、混合线性模型和2012年10月公布的最新版绵羊基因组Ovis_aries_v3.1序列信息。结果表明,有10个SNPs位点在全基因组显著水平上与断奶后日增重相关,部分位点分布在羊注释基因内(MEF2B、RFXANK等);除此之外还检测到22个SNPs在染色体显著水平上与其他体重性状存在相关性,获得一批重要的候选基因。这些基因对绵羊体重性状功能基因的挖掘具有重要的理论意义和参考价值。
[Objective] This study discussed the SNPs of SLC27A1 gene and its relationship with milk production traits in Chinese Holstein Cattle in order to find the SNP site which had significant effect on milk production traits in Chinese Holstein Cattle.[Method] DNA was extracted from the bleed of 48 Chinese Holstein Cattle selected according to phenotypic character and mixed into DNA pool for SNPs detection by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)and cloning sequencing.Then different genotypes were detected in other 231 Chinese Holstein Cattle by PCR-RFLP.The association between genotype and production traits was assessed by GLM procedure,SAS version 8.02.[Result] There were T112C in exon3 and G64A loci in 3'UTR,among them the T112C in exon3 was synonymous mutation.There were 3 genotypes TT,TC and CC in T112C locus and 3 genotypes GG,GA and AA in G64A locus.The population was at Hardy-Weinberg equilibration.Cows with genotype CC had significantly highest milk yield than those with genotype TC(P0.01),and there were no significant differences among the 3 genotypes on milk protein percent and milk fat percent(P0.05),but the tendency of CC TC TT on milk protein percent and the tendency of TT TC CC on milk fat percent were showed.There was no significant difference among the 3 genotypes of G64A loci on milk yield,milk protein percent and milk fat percent(P0.05),but the tendency of GA GG AA on milk yield and the tendency of AA GG GA both on milk protein percent and milk fat percent were showed.[Conclusion] There was certain relation between the T112C locus and milk yield traits;It may improve milk yield to raise the frequency of genotype CC;SLC27A1 gene could be a useful candidate gene in selection program on milk yield traits in Chinese Holstein Cattle,which provided a theoretical basis for the marker-assisted breeding and further study of SLC27A1 gene.