Abstract
Identity by descent (IBD) segments, uninterrupted DNA segments derived from the same ancestral chromosomes, are widely used as indicators of relationships in genetics. A great deal of research focuses on IBD segments between related pairs, while the statistical analyses of segments in irrelevant individuals are rare. In this study, we investigated the basic informative features of IBD segments in unrelated pairs in Chinese populations from the 1000 Genome Project. A total of 5922 IBD segments in Chinese interpopulation unrelated individual pairs were detected via IBIS and the average length of IBD was 3.71 Mb in length. It was found that 17.86% of unrelated pairs shared at least one IBD segment in the Chinese cohort. Furthermore, a total of 49 chromosomal regions where IBD segments clustered in high abundance were identified, which might be sharing hotspots in the human genome. Such regions could also be observed in other ancestry populations, which implies that similar IBD backgrounds also exist. Altogether, these results demonstrated the distribution of common background IBD segments, which helps improve the accuracy in pedigree studies based on IBD analysis.
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Acknowledgements
This study was supported by grants from the National Natural Science Fund of China (82171875).
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QJ contributed to conceptualization, methodology, data curation and analysis, validation, visualization, and writing of original draft. YY contributed to methodology, data curation and analysis. ZL and ZZ contributed to data curation. JQ contributed to investigation. QT contributed to resources. JX contributed to conceptualization, supervision, writing and project administration. All the authors revised and approved the final manuscript.
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Communicated by Shuhua Xu.
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Ji, Q., Yao, Y., Li, Z. et al. Characterizing identity by descent segments in Chinese interpopulation unrelated individual pairs. Mol Genet Genomics 299, 37 (2024). https://doi.org/10.1007/s00438-024-02132-7
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DOI: https://doi.org/10.1007/s00438-024-02132-7