International Journal of Legal Medicine

, Volume 119, Issue 4, pp 241–246 | Cite as

Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay

  • Burkhard Berger
  • Alexandra Lindinger
  • Harald Niederstätter
  • Petra Grubwieser
  • Walther Parson
Short Communication


Y-chromosomal STR haplotypes were determined from a sample of 135 unrelated men and 70 sons from Tirol (Austria) using the AmpFlSTR Yfiler PCR amplification kit (Applied Biosystems) that coamplifies 17 Y-STRs. The panel of markers includes the 9-loci European minimal haplotype (minHt) and, in addition, the markers DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4) and Y GATA H4. A total of 130 different haplotypes (125 were unique) were identified by the 17 Y-STR markers, an increase of 19 compared with the minHt. The gene diversity of DYS635, DYS456 and DYS458 exceeded 0.75 and only that of the duplicated marker DYS385 (0.86) was higher. Consistently high haplotype diversity values were found in all tested Y-SNP haplogroups. Because the simultaneous analysis of 17 Y-STR systems offers a high power of discrimination at minimum sample consumption, the Yfiler kit is a promising tool for forensic applications.


Y chromosome Short tandem repeats Y-haplotypes Y-SNP Haplogroups Population data Austria 


  1. 1.
    Skaletsky H, Kuroda-Kawaguchi T, Minx PJ et al (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837Google Scholar
  2. 2.
    Kayser M, Caglia A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–129Google Scholar
  3. 3.
    Pascali VL, Dobosz M, Brinkmann B (1999) Coordinating Y-chromosomal STR research for the courts. Int J Leg Med 112:1Google Scholar
  4. 4.
    Roewer L, Krawczak M, Willuweit S et al (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106–113Google Scholar
  5. 5.
    Krenke BE, Viculis L, Richard ML et al (2005) Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex. Forensic Sci Int 148:1–14Google Scholar
  6. 6.
    Beleza S, Alves C, Gonzalez-Neira A, Lareu M, Amorim A, Carracedo A, Gusmao L (2003) Extending STR markers in Y chromosome haplotypes. Int J Leg Med 117:27–33Google Scholar
  7. 7.
    Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, de Knijff P, Jobling MA (2002) High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int 125:42–51Google Scholar
  8. 8.
    Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF (2002) A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int 129:10–24Google Scholar
  9. 9.
    Gusmao L, Alves C, Beleza S, Amorim A (2002) Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. Int J Leg Med 116:139–147Google Scholar
  10. 10.
    Quintans B, Beleza S, Brion M, Sanchez-Diz P, Lareu M, Carracedo A (2003) Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4. Forensic Sci Int 131:220–224Google Scholar
  11. 11.
    Redd AJ, Agellon AB, Kearney VA et al (2002) Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 130:97–111Google Scholar
  12. 12.
    Schoske R, Vallone PM, Kline MC, Redman JW, Butler JM (2004) High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays. Forensic Sci Int 139:107–121Google Scholar
  13. 13.
    Uchihi R, Yamamoto T, Usuda K et al (2003) Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan. Int J Leg Med 117:34–38Google Scholar
  14. 14.
    Zarrabeitia MT, Riancho JA, Gusmao L, Lareu MV, Sanudo C, Amorim A, Carracedo A (2003) Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4). Int J Leg Med 117:306–311Google Scholar
  15. 15.
    Kayser M, Kittler R, Erler A et al (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74:1183–1197Google Scholar
  16. 16.
    Sinha SK, Budowle B, Arcot SS et al (2003) Development and validation of a multiplexed Y-chromosome STR genotyping system, Y-PLEX 6, for forensic casework. J Forensic Sci 48:93–103Google Scholar
  17. 17.
    Berger B, Niederstätter H, Brandstätter A, Parson W (2003) Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci Int 137:221–230Google Scholar
  18. 18.
    Schneider S, Roessli D, Excoffier L (2000) Arlequin ver.2.000: a software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, SwitzerlandGoogle Scholar
  19. 19.
    Niederstätter H, Berger B, Oberacher H, Brandstätter A, Huber CG, Parson W (2004) Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance? Int J Leg Med 119:1–9Google Scholar
  20. 20.
    Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612Google Scholar
  21. 21.
    Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348Google Scholar
  22. 22.
    Parson W, Niederstätter H, Köchl S, Steinlechner M, Berger B (2001) When autosomal short tandem repeats fail: optimized primer and reaction design for Y-chromosome short tandem repeat analysis in forensic casework. Croat Med J 42:285–287Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Burkhard Berger
    • 1
  • Alexandra Lindinger
    • 1
  • Harald Niederstätter
    • 1
  • Petra Grubwieser
    • 1
  • Walther Parson
    • 1
  1. 1.Institute of Legal MedicineInnsbruck Medical UniversityInnsbruckAustria

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