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International Journal of Legal Medicine

, Volume 110, Issue 3, pp 125–133 | Cite as

Evaluation of Y-chromosomal STRs: a multicenter study

  • M. Kayser
  • A. Caglià
  • D. Corach
  • N. Fretwell
  • C. Gehrig
  • G. Graziosi
  • F. Heidorn
  • S. Herrmann
  • B. Herzog
  • M. Hidding
  • K. Honda
  • M. Jobling
  • M. Krawczak
  • K. Leim
  • S. Meuser
  • E. Meyer
  • W. Oesterreich
  • A. Pandya
  • W. Parson
  • G. Penacino
  • A. Perez-Lezaun
  • A. Piccinini
  • M. Prinz
  • C. Schmitt
  • P. M. Schneider
  • R. Szibor
  • J. Teifel-Greding
  • G. Weichhold
  • P. de Knijff
  • L. Roewer
Original article

Abstract

A multicenter study has been carried out to characterize 13 polymorphic short tandem repeat (STR) systems located on the male specific part of the human Y chromosome (DYS19, DYS288, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, YCAI, YCAII, YCAIII, DXYS156Y). Amplification parameters and electrophoresis protocols including multiplex approaches were compiled. The typing of non-recombining Y loci with uniparental inheritance requires special attention to population substructuring due to prevalent male lineages. To assess the extent of these subheterogeneities up to 3825 unrelated males were typed in up to 48 population samples for the respective loci. A consistent repeat based nomenclature for most of the loci has been introduced. Moreover we have estimated the average mutation rate for DYS19 in 626 confirmed father-son pairs as 3.2 × 10–3 (95% confidence interval limits of 0.00041–0.00677), a value which can also be expected for other Y-STR loci with similar repeat structure. Recommendations are given for the forensic application of a basic set of 7 STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) for standard Y-haplotyping in forensic and paternity casework. We recommend further the inclusion of the highly polymorphic bilocal Y-STRs DYS385, YCAII, YCAIII for a nearly complete individualisation of almost any given unrelated male individual. Together, these results suggest that Y-STR loci are useful markers to identify males and male lineages in forensic practice.

Key words Short tandem repeats Y chromosome Population analysis Mutation rate Y haplotype analysis 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • M. Kayser
    • 1
  • A. Caglià
    • 2
  • D. Corach
    • 3
  • N. Fretwell
    • 4
  • C. Gehrig
    • 5
  • G. Graziosi
    • 6
  • F. Heidorn
    • 7
  • S. Herrmann
    • 8
  • B. Herzog
    • 9
  • M. Hidding
    • 10
  • K. Honda
    • 11
  • M. Jobling
    • 4
  • M. Krawczak
    • 12
  • K. Leim
    • 13
  • S. Meuser
    • 14
  • E. Meyer
    • 15
  • W. Oesterreich
    • 16
  • A. Pandya
    • 17
  • W. Parson
    • 18
  • G. Penacino
    • 3
  • A. Perez-Lezaun
    • 19
  • A. Piccinini
    • 20
  • M. Prinz
    • 21
  • C. Schmitt
    • 10
  • P. M. Schneider
    • 14
  • R. Szibor
    • 22
  • J. Teifel-Greding
    • 23
  • G. Weichhold
    • 24
  • P. de Knijff
    • 25
  • L. Roewer
    • 1
  1. 1.Institut für Gerichtliche Medizin, Hannoversche Strasse 6, D-10115 Berlin, Germany FAX: +49 (30) 2093 7240DE
  2. 2.Instituto di Medicina Legale, Università Cattolica del S. Cuore, Largo Francesco Vito 1, I-00168 Roma, ItalyFR
  3. 3.Servicio de Huellas Digitales Geneticas, Facultad de Farmacia y Bioquimica UBA, Junin 956, 1113 Buenos Aires, ArgentinaAR
  4. 4.Department of Genetics, University of Leicester, University Road, Leicester LEI 7RH, UKGB
  5. 5.Institut für Rechtsmedizin, Buehlstrasse 20, CH-3012 Bern, SwitzerlandCH
  6. 6.Department of Biology, University of Trieste, Via Giorgeri 5, I-34127 Trieste, ItalyIT
  7. 7.Institut für Rechtsmedizin, Hittorfstrasse 18, D-14195 Berlin, GermanyDE
  8. 8.Landeskriminalamt Berlin, Gothaer Strasse 19, D-10823 Berlin, GermanyDE
  9. 9.Institut für Rechtsmedizin, Fürstengraben 2, D-07743 Jena, GermanyDE
  10. 10.Institut für Rechtsmedizin, Melatengürtel 60–62, D-50823 Köln, GermanyDE
  11. 11.Department of Legal Medicine, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565, JapanJP
  12. 12.Institute of Medical Genetics, University of Wales, Heath Park, Cardiff CF4 4XN, UKGB
  13. 13.Institut für Rechtsmedizin, Vosstrasse 2, 69115 Heidelberg, GermanyDE
  14. 14.Institut für Rechtsmedizin, Am Pulverturm 3, D-55131 Mainz, GermanyDE
  15. 15.Institut für Rechtsmedizin, von-Esmarch-Strasse 86, D-48149 Münster, GermanyDE
  16. 16.Landeskriminalamt Brandenburg, Prenzlauer Strasse 66–70, D-16352 Basdorf, GermanyDE
  17. 17.CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UKGB
  18. 18.Institut für Gerichtliche Medizin, Müllerstrasse 44, A-6020 Innsbruck, AustriaAT
  19. 19.Department Anthropologia, Facultat Biologia, Universitat de Barcelona, Diagonal 645, Barcelona 08028, SpainES
  20. 20.Instituto di Medicina Legale, Università Milano, Via Mangiagalli 37, I-20133 Milano, ItalyIT
  21. 21.Department of Forensic Biology, OCME, 520 First Avenue, NY 10016 New York, USAUS
  22. 22.Institut für Rechtsmedizin, Leipziger Strasse 44, D-39112 Magdeburg, GermanyDE
  23. 23.Bayerisches Landeskriminalamt, Maillingerstrasse 15, D-80636 München, GermanyDE
  24. 24.Institut für Rechtsmedizin, Frauenlobstrasse 7a, D-80337 München, GermanyDE
  25. 25.MGC Department of Human Genetics, Leiden University, P.O.Box 9503, 2300 RA Leiden, The NetherlandsNL

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