近交系小鼠C57BL/10和C57BL/6的全基因组学差异研究

目的：利用全基因组测序方法比较近交系小鼠C57BL/10和C57BL/6的基因组差异，并筛选免疫应答差异基因，对建立药物体内活性评价动物模型具有重要参考意义。方法：采用Illumina Hiseq 2500测序平台对近交系小鼠C57BL/10进行全基因组测序，与近交系小鼠C57BL/6参考全基因组进行比对。将变异检测得到的SNP位点，去掉同义突变之后，利用NCBI中BioMart进行功能注释。提取出免疫相关的转录本ID、基因ID和功能注释的信息，并与近交系小鼠C57BL/6参考全基因组进行比对。结果：获得C57BL/10小鼠原始数据量80.871G，过滤后的有效数据量79.322G，通过与C57BL/6小鼠参考基因组比对和基因功能分类，筛选出4个免疫应答差异基因。结论：本研究发现近交系小鼠C57BL/10和C57BL/6基因组的免疫应答基因存在显著差异。在分析中筛选出4个小鼠免疫应答差异基因，为建立生物制品体内评价实验动物模型和标准化提供了新的线索和技术手段。

Objective: To compare the genomic differences between inbred mice C57BL/10 and C57BL/6 by using whole genome sequencing method,and screen the genes with different immune responses,so as to provide an important reference for the establishment of animal models for drug in vivo activity evaluation. Methods: Illumina Hiseq 2500 platform was utilized to sequence the whole genome of inbred mouse C57BL/10,and compared the whole genome profile with C57BL/6. Removed the SNP sites obtained by mutation detection. After removing the synonymous mutation,functional description conducted by BioMart in NCBI was used to extract the immune-related transcription ID,gene ID and functional description information,and then compared with the whole genome profile with C57BL/6. Results: 80.871G raw data and 79.322G clean data of C57BL/10 mice were obtained. Four immune response related genes were found by comparing with C57BL/6 mice gemome and gene ontology classification. Conclusion: Significantly differentially expressed genes are found between the inbred mouse strains C57BL/6 (B6) and C57BL/10 (B10). In analysis,four immune response related genes are found,which provides a new way for experimental animal model establishment and standardization of in vivo evaluation of biological products.

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