International Journal of Legal Medicine

, Volume 122, Issue 6, pp 449–456 | Cite as

The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland

  • Jukka U. PaloEmail author
  • Markus Pirttimaa
  • Auli Bengs
  • Vivian Johnsson
  • Ismo Ulmanen
  • Matti Lukka
  • Bjarne Udd
  • Antti Sajantila
Original Article


The Y-chromosomal diversity among Finnish males is characterized by low diversity and substantial geographical substructuring. In a 12-locus data set (PowerPlexY), espe-cially the eastern parts of the country showed low levels of variation, and the western, middle, and eastern parts of Finland differed from each other by their Y-short tandem repeat (STR) haplotype frequencies (Palo et al., Forensic Sci Int Genet 1:120–124, 2007). In this paper, we have analyzed geographical patterns of Y-STR diversity using both 12-locus (PowerPlexY) and 17-locus (Yfiler) data sets from the same set of geographically structured samples. In the larger data set, the haplotype diversity is significantly higher, as expected. The geographical distribution of haplotypes is similar in both data sets, but the level of interregional differences is significantly lower in the Yfiler data. The implications of these observations on the forensic casework are discussed.


Finland Y-STR AmpFlSTR Yfiler PowerPlexY Population subdivision 



The authors wish to thank Ms. Marika Merisalo and Mrs. Airi Sinkko for technical assistance, and four anonymous referees for their comments on the manuscript. Financial support was provided by the Academy of Finland: grants 1109265 and 1111713 to JUP; grant 80578 to AS within the framework of the European Science Foundation EUROCORES programme “The Origin of Man, Language and Languages”.


  1. 1.
    Alves C, Gomes V, Prata MJ, Amorim A, Gusmão L (2007) Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFISTR YFiler) in Portugal. Forensic Sci Int 171:250–255PubMedCrossRefGoogle Scholar
  2. 2.
    Balding DJ, Nichols RA (1994) DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci Int 64:125–140PubMedCrossRefGoogle Scholar
  3. 3.
    Budowle B, Adamowicz M, Aranda XG et al (2005) Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America. Forensic Sci Int 150:1–15PubMedCrossRefGoogle Scholar
  4. 4.
    Excoffier L, Laval LG, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetic data analysis. Evol Bioinf Online 1:47–50Google Scholar
  5. 5.
    Gross AM, Berdos P, Ballantyne J (2006) Y-STR concordance study between Y-Plex (TM) 5, Y-Plex (TM) 6, Y-Plex (TM) 12, Powerplex (R) Y, Y-Filer (TM), MPI, and MPII. J Forensic Sci 51:1423–1428PubMedCrossRefGoogle Scholar
  6. 6.
    Gusmão L, Butler JM, Carracedo A et al (2006) 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 120:191–200PubMedCrossRefGoogle Scholar
  7. 7.
    Hammer MF, Zegura SL (2002) The human Y chromosome haplogroup tree: nomenclature and phylogeography of its major divisions. Ann Rev Anthropol 31:303–321CrossRefGoogle Scholar
  8. 8.
    Hedman M, Pimenoff V, Lukka A, Sistonen P, Sajantila A (2004) Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages. Forensic Sci Int 142:37–43PubMedCrossRefGoogle Scholar
  9. 9.
    Jobling MA, Pandya A, TylerSmith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118–124PubMedCrossRefGoogle Scholar
  10. 10.
    Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612PubMedCrossRefGoogle Scholar
  11. 11.
    Kayser M, Caglia A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133 141–129PubMedCrossRefGoogle Scholar
  12. 12.
    Kayser M, Brauer S, Schadlich H et al (2003) Y chromosome STR haplotypes and the genetic structure of US populations of African, European, and Hispanic ancestry. Gen Res 13:624–634CrossRefGoogle Scholar
  13. 13.
    Kittles RA, Bergen AW, Urbanek M et al (1999) Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck. Am J Phys Anthropol 108:381–399PubMedCrossRefGoogle Scholar
  14. 14.
    Lappalainen T, Koivumäki S, Salmela E et al (2006) Regional differences among the Finns: a Y-chromosomal perspective. Gene 376:207–215PubMedCrossRefGoogle Scholar
  15. 15.
    Mayntz-Press KA, Ballantyne J (2007) Performance characteristics of commercial Y-STR multiplex systems. J Forensic Sci 52:1025–1034PubMedCrossRefGoogle Scholar
  16. 16.
    Norio R (2003) Finnish Disease Heritage II: population prehistory and genetic roots of Finns. Hum Genet 112:457–469PubMedGoogle Scholar
  17. 17.
    Palo JU, Hedman M, Ulmanen I, Lukka M, Sajantila A (2007) High degree of Y-chromosomal divergence within Finland—forensic aspects. Forensic Sci Int Genet 1:120–124CrossRefGoogle Scholar
  18. 18.
    Pereira RW, Monteiro EHG, Hirschfeld GCR, Wang AY, Grattapaglia D (2007) Haplotype diversity of 17 Y-chromosome STRs in Brazilians. Forensic Sci Int 171:226–236PubMedCrossRefGoogle Scholar
  19. 19.
    Petit RJ, El Mousadik A, Pons O (1998) Identifying populations for conservation on the basis of genetic markers. Cons Biol 12:844–855CrossRefGoogle Scholar
  20. 20.
    Redd AJ, Chamberlain VF, Kearney VF et al (2006) Genetic structure among 38 populations from the United States based on 11 U.S. core Y chromosome STRs. J Forensic Sci 51:580–585PubMedCrossRefGoogle Scholar
  21. 21.
    Roewer L, Willuweit S, Krüger C et al (2008) Analysis of Y chromosome STR haplotypes in the European part of Russia reveals high diversities but non-significant genetic distances between populations. Int J Legal Med 122:219–223PubMedCrossRefGoogle Scholar
  22. 22.
    Roewer L, Kayser M, de Knijff P et al (2000) A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. Forensic Sci Int 114:31–43PubMedCrossRefGoogle Scholar
  23. 23.
    Roewer L, Croucher PJP, Willuweit S et al (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116:279–291PubMedCrossRefGoogle Scholar
  24. 24.
    Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, Pääbo S (1996) Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. P Natl Acad Sci USA 93:12035–12039CrossRefGoogle Scholar
  25. 25.
    Tamura K, Dudley J, Nei M, Kumar S (2007) MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0. Mol Biol Evol 24:1596–1599PubMedCrossRefGoogle Scholar
  26. 26.
    Underhill PA, Shen PD, Lin AA et al (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361PubMedCrossRefGoogle Scholar
  27. 27.
    Underhill PA, Passarino G, Lin AA et al (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43–62PubMedCrossRefGoogle Scholar
  28. 28.
    Willuweit S, Roewer L (2007) Y chromosome haplotype reference database: Update. Forensic Sci Int Genetics 1:83–87CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • Jukka U. Palo
    • 1
    Email author
  • Markus Pirttimaa
    • 2
  • Auli Bengs
    • 2
  • Vivian Johnsson
    • 2
  • Ismo Ulmanen
    • 3
  • Matti Lukka
    • 3
  • Bjarne Udd
    • 4
  • Antti Sajantila
    • 1
  1. 1.Department of Forensic MedicineUniversity of HelsinkiHelsinkiFinland
  2. 2.Forensic LaboratoryNational Bureau of InvestigationVantaaFinland
  3. 3.Paternity Testing LaboratoryNational Public Health InstituteHelsinkiFinland
  4. 4.Vaasa Central HospitalVaasaFinland

Personalised recommendations