Abstract
Y chromosome short tandem repeats (Y-STRs) are commonly used to analyze male-specific DNA. Although biallelic patterns due to duplication events have been detected at some loci, Y-STRs generally appear as a single peak except for DYS385 because the Y chromosome is haploid. STR loci in regions of segmental duplication by homologous recombination on the Y chromosome exhibit double allelic peaks, rather than single peaks. In this study, we report a bi- and triallelic pattern observed simultaneously in DYS390, DYS518, and DYS643. A bi- and triallelic pattern has not previously been observed simultaneously for these three loci. We also identified the copy number variation in the region including these loci by the microarray-based analysis. Given the peak balance pattern, the copy number variation, and the close position of these three loci on the Y chromosome, we consider that this phenomenon is caused by a segmental duplication in the euchromatin region. By ruling out mixed samples, a common interpretation of multiple peaks, these results have practical implications for the interpretation of Y-STR results in forensics analyses.
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Funding
This study was funded by the National Forensic Service [NFS2018DNA03] and Ministry of Oceans and Fisheries [20140428].
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Park, HC., Lee, EJ., Nam, YH. et al. Genetic variation for three Y-STR loci: DYS390, DYS518, and DYS643. Int J Legal Med 133, 1007–1013 (2019). https://doi.org/10.1007/s00414-018-1947-9
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DOI: https://doi.org/10.1007/s00414-018-1947-9