International Journal of Legal Medicine

, Volume 121, Issue 1, pp 24–27 | Cite as

Population study and evaluation of 20 Y-chromosome STR loci in Germans

  • Heike RodigEmail author
  • Manja Grum
  • Hans-Dieter Grimmecke
Original Article


The nine European minimal haplotype (EMH) loci, the two SWGDAM loci and five further single-copy Y-chromosomal short tandem repeats (Y-STRs) DYS446, DYS447, DYS448, DYS449, DYS463, and the multicopy loci DYS464 were evaluated in the German population groups Dresden, Hamburg, Rostock, Munich, and the Sorbs who are a Slavic-speaking minority in Lusatia. Highest gene diversities in all populations were shown for DYS464, DYS385, and DYS449 (D=0.8559–0.9486). The haplotype diversity for the European minimal haplotype loci ranged between 0.9852 for Sorbs and 0.9983 for the Hamburg population showing that there is a significant portion of haplotypes which could not be resolved. Advanced typing using DYS446, DYS447, DYS448, DYS449, DYS463, and DYS464 discriminated all non-related individuals of the Dresden, Hamburg, and Rostock populations. Evaluation of the Y-STRs was accomplished by sequence analysis of all allelic fragments of the allelic ladders and microvariant alleles of DYS385 and the determination of the amounts of stutter products of the loci.


Y-STR European minimal haplotype SWGDAM Population study Microvariants DYS385 DYS446 DYS447 DYS448 DYS449 DYS463 DYS464 



This work was supported by the German Federal Ministry of Education and Research (BMBF, project number 03i4008). The authors would like to thank Lutz Roewer for kind cooperation. We also thank all the DNA donors and Christa Augustin, Volker Weirich, Burkhard Rolf, and Ivana Furac for kindly provided DNA samples. We acknowledge Stefanie Weidlich, Susann Gerber, and Mareen Müller for excellent technical assistance.

Supplementary material

414_2005_75_MOESM1_ESM.pdf (22 kb)
Supplementary Table 1 Allele frequencies and gene diversities for Y-STR loci in Germans (PDF 22 kb)
414_2005_75_MOESM2_ESM.pdf (31 kb)
Supplementary Table 2 Y-chromosome haplotype distribution in 235 individuals from 5 German population groups (PDF 31 kb)
414_2005_75_MOESM3_ESM.pdf (8 kb)
Supplementary Table 3 Ranking list of Y-STR loci with regard to high values of gene diversity (PDF 8 kb)
414_2005_75_MOESM4_ESM.pdf (7 kb)
Supplementary Table 4 Haplotype diversities of 5 German populations. European Minimal Haplotype loci (EMH), SWGDAM loci, and loci of the RAR multiplex were analyzed (PDF 7 kb)
414_2005_75_MOESM5_ESM.pdf (6 kb)
Supplementary Table 5 Stutter artefacts of Y-STRs . The peak areas were used to calculate the relative amount of the stutter artefacts (% stutter) in comparison to the allele specific product (PDF 5 kb)
414_2005_75_MOESM6_ESM.pdf (10 kb)
Supplementary Table 6 Sequencing data of allelic ladders and haplotypes of reference DNAs (PDF 10 kb)
414_2005_75_MOESM7_ESM.pdf (5 kb)
Supplementary Table 7 Microvariant alleles of DYS385 (PDF 5 kb)


  1. 1.
    Kayser M, Caglia A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133, 141–149CrossRefPubMedGoogle Scholar
  2. 2.
    Pascali VL, Dobosz M, Brinkmann B (1998) Coordinating Y-chromosomal STR research for the courts. Int J Legal Med 112:1CrossRefGoogle Scholar
  3. 3.
    Roewer L, Croucher PJ, Willuweit S et al (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116:279–291CrossRefPubMedGoogle Scholar
  4. 4.
    Redd AJ, Agellon AB, Kearney VA et al (2002) Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 130:97–111CrossRefPubMedGoogle Scholar
  5. 5.
    Ayub Q, Mohyuddin A, Qamar R et al (2000) Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res 28:E8–E8CrossRefPubMedGoogle Scholar
  6. 6.
    Gill P, Brenner C, Brinkmann B et al (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Forensic Sci Int 124:5–10CrossRefPubMedGoogle Scholar
  7. 7.
    Gill P, Brenner C, Brinkmann B et al (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med 114:305–309CrossRefPubMedGoogle Scholar
  8. 8.
    Gusmão L, Butler JM, Carracedo A et al (2005) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 26:1–10CrossRefGoogle Scholar
  9. 9.
    Butler JM, Schoske R (2004) Forensic value of the multicopy Y-STR marker DYS464. In: Doutremepuich C (ed) Progress in forensic genetics 10—proceedings of the 20th International ISFG Congress, Arcachon, France, 9–13 September 2003. Elsevier Science, Amsterdam, The Netherlands, pp 278–280Google Scholar
  10. 10.
    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 139:107–121CrossRefPubMedGoogle Scholar
  11. 11.
    Nei M, Tajima F (1981) DNA polymorphism detectable by restriction endonucleases. Genetics 97:145–163PubMedGoogle Scholar
  12. 12.
    de Souza Goés AC, de Carvalho EF, Gomes I et al (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119:70–76CrossRefPubMedGoogle Scholar
  13. 13.
    Berger B, Lindinger A, Niederstätter H, Grubwieser P, Parson W (2005) Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med 119:241–246PubMedCrossRefGoogle Scholar
  14. 14.
    Kayser M, Kittler R, Erler A et al (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74:1183–1197CrossRefPubMedGoogle Scholar
  15. 15.
    Hauge XY, Litt M (1993) A study of the origin of ‘shadow bands’ seen when typing dinucleotide repeat polymorphisms by the PCR. Hum Mol Genet 2:411–415PubMedGoogle Scholar
  16. 16.
    Walsh PS, Fildes NJ, Reynolds R (1996) Sequence analysis and characterization of stutter products at the tetranucleotide repeat locus vWA. Nucleic Acids Res 24:2807–2812CrossRefPubMedGoogle Scholar
  17. 17.
    Daniels DL, Hall AM, Ballantyne J (2004) SWGDAM developmental validation of a 19-locus Y-STR system for forensic casework. J Forensic Sci 49:668–683CrossRefPubMedGoogle Scholar
  18. 18.
    Komuro T, Tsutsumi H, Mukoyama R, Nakamura M (1998) Repeat structure of DYS389 locus. Nippon Hoigaku Zasshi 52:227–232PubMedGoogle Scholar
  19. 19.
    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 129:10–24CrossRefPubMedGoogle Scholar
  20. 20.
    Schoske R (2003) The design, optimization and testing of Y chromosome short tandem repeat megaplexes. Thesis, Faculty of the College of Arts and Sciences of the American University, WashingtonGoogle Scholar
  21. 21.
    Füredi S, Woller J, Padar Z, Angyal M (1999) Y-STR haplotyping in two Hungarian populations. Int J Legal Med 113:38–42CrossRefPubMedGoogle Scholar
  22. 22.
    Bhoopat T, Hohoff C, Steger HF (2003) Identification of DYS385 allele variants by using shorter amplicons and northern Thai haplotype data. J Forensic Sci 48:1108–1112PubMedGoogle Scholar
  23. 23.
    Immel UD, Krawczak M, Udolph J, Richter A, Rodig H, Kleiber M, Klintschar M (2006) Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population. Eur J Hum Genet 14:577–582Google Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Heike Rodig
    • 1
    Email author
  • Manja Grum
    • 1
  • Hans-Dieter Grimmecke
    • 1
  1. 1.Biotype AGDresdenGermany

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