Yao Yining, Sun Kuan, Yang Qinrui, Zhou Zhihan, Shao Chengchen, Qian Xiaoqin, Tang Qiqun, Xie Jianhui
Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, China.
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China.
Front Genet. 2022 Feb 1;12:809815. doi: 10.3389/fgene.2021.809815. eCollection 2021.
Multiple mutational events of insertion/deletion occurring at or around InDel sites could form multi-allelic InDels and multi-InDels (abbreviated as MM-InDels), while InDels with random DNA sequences could imply a unique mutation event at these loci. In this study, preliminary investigation of MM-InDels with random sequences was conducted using high-throughput phased data from the 1000 Genomes Project. A total of 3,599 multi-allelic InDels and 6,375 multi-InDels were filtered with multiple alleles. A vast majority of the obtained MM-InDels (85.59%) presented 3 alleles, which implies that only one secondary insertion or deletion mutation event occurred at these loci. The more frequent presence of two adjacent InDel loci was observed within 20 bp. MM-InDels with random sequences presented an uneven distribution across the genome and showed a correlation with InDels, SNPs, recombination rate, and GC content. The average allelic frequencies and prevalence of multi-allelic InDels and multi-InDels presented similar distribution patterns in different populations. Altogether, MM-InDels with random sequences can provide useful information for population resolution.
在插入/缺失（InDel）位点或其附近发生的多个插入/缺失突变事件可形成多等位基因InDels和多InDels（简称为MM-InDels），而具有随机DNA序列的InDels可能意味着这些位点发生了独特的突变事件。在本研究中，利用千人基因组计划的高通量分型数据对具有随机序列的MM-InDels进行了初步研究。共筛选出3599个多等位基因InDels和6375个多InDels。绝大多数获得的MM-InDels（85.59%）呈现3个等位基因，这意味着在这些位点仅发生了一次二次插入或缺失突变事件。在20 bp范围内观察到两个相邻InDel位点更频繁出现。具有随机序列的MM-InDels在全基因组中分布不均，且与InDels、单核苷酸多态性（SNP）、重组率和GC含量相关。多等位基因InDels和多InDels的平均等位基因频率和流行率在不同人群中呈现相似的分布模式。总之，具有随机序列的MM-InDels可为群体分辨提供有用信息。
