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International Journal of Legal Medicine

, Volume 133, Issue 4, pp 1007–1013 | Cite as

Genetic variation for three Y-STR loci: DYS390, DYS518, and DYS643

  • Hyun-Chul Park
  • Eun-Jung Lee
  • Youn-Hyung Nam
  • Nam-Soo Cho
  • Si-Keun LimEmail author
  • Won KimEmail author
Case Report

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.

Keywords

Segmental duplication Biallelic pattern DYS390 DYS518 DYS643 

Notes

Funding information

This study was funded by the National Forensic Service [NFS2018DNA03] and Ministry of Oceans and Fisheries [20140428].

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

414_2018_1947_MOESM1_ESM.docx (18 kb)
ESM 1 (DOCX 18 kb)
414_2018_1947_MOESM2_ESM.xlsx (23 kb)
ESM 2 (XLSX 22 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Forensic DNA DivisionNational Forensic ServiceWonjuRepublic of Korea
  2. 2.School of Biological SciencesSeoul National UniversitySeoulRepublic of Korea
  3. 3.Forensic Medicine DivisionNational Forensic Service Gwangju InstituteGwangjuRepublic of Korea
  4. 4.Forensic Medicine DivisionNational Forensic Service Daejeon InstituteDaejeonRepublic of Korea

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