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- Title
Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome.
- Authors
Yao, Yining; Sun, Kuan; Yang, Qinrui; Zhou, Zhihan; Shao, Chengchen; Qian, Xiaoqin; Tang, Qiqun; Xie, Jianhui
- Abstract
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.
- Subjects
DELETION mutation; DNA sequencing; HUMAN DNA; LOCUS (Genetics); INSERTION mutation
- Publication
Frontiers in Genetics, 2022, Vol 12, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2021.809815