关键词: 卷毛鼠, 全基因组测序, 遗传变异信息

Abstract: Objective Whole genome sequencing was used to compare the genomic differences between BALB / c mutant curly mice and normal BALB / c mice. Method The whole genome of BALB / c mutant curly mice and normal BALB / c mice were sequenced by Illumina PE 150 sequencing platform, and the genetic variation information ( SNP, INDEL, SV and CNV) were compared and analyzed. Result The raw data produced by normal mice and curly mice were 122. 85 Gb and 118. 04 Gb respectively, the filtered clean data were 119. 82 Gb and 112. 18 Gb respectively, and the GC contents were 40. 63% and 40. 48% respectively. The sequencing quality was qualified, the GC distribution was normal, and the library was established and sequenced successfully. The total number of heterozygous SNPs in curly mice was significantly higher than that in normal mice, and there were significant differences in the depth distribution of cumulative SNPs between normal mice and curly mice. There were differences in indels and cumulative indels depth distribution between curly mice and normal mice. The insertion of large fragments in SV types of curly mice and normal mice was larger than that of normal mice, while other types were smaller than that of normal mice. The copy number variation (CNVs) result showed that the number of copies increased in abnormal mice and curly mice were 1 270 and 967, respectively; the number of copies decreased by 5 027 and 3 505 respectively. Conclusion This study found that there were some differences between the genomes of normal mice and mutant curly haired mice.

Key words: curly hair mice, whole genome sequencing, genetic variation information