International Journal of Legal Medicine

, Volume 123, Issue 4, pp 315–325 | Cite as

Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis

  • Caroline BouakazeEmail author
  • Christine Keyser
  • Eric Crubézy
  • Daniel Montagnon
  • Bertrand Ludes
Original Article


In the present study, a multiplexed genotyping assay for ten single nucleotide polymorphisms (SNPs) located within six pigmentation candidate genes was developed on modern biological samples and applied to DNA retrieved from 25 archeological human remains from southern central Siberia dating from the Bronze and Iron Ages. SNP genotyping was successful for the majority of ancient samples and revealed that most probably had typical European pigment features, i.e., blue or green eye color, light hair color and skin type, and were likely of European individual ancestry. To our knowledge, this study reports for the first time the multiplexed typing of autosomal SNPs on aged and degraded DNA. By providing valuable information on pigment traits of an individual and allowing individual biogeographical ancestry estimation, autosomal SNP typing can improve ancient DNA studies and aid human identification in some forensic casework situations when used to complement conventional molecular markers.


Autosomal SNPs Pigmentation Ancestry Ancient DNA SNaPshot 



We would like to thank all volunteers who participated to this study by giving us their DNA. We thank more particularly Sophie Lienart, Sarah Romac, Prisca Blandin, and Aurélie Marchet for their valuable technical help and Marie Lacan for pertinent comments during the redaction of this paper.


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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Caroline Bouakaze
    • 1
    Email author
  • Christine Keyser
    • 1
    • 2
  • Eric Crubézy
    • 2
  • Daniel Montagnon
    • 1
  • Bertrand Ludes
    • 1
    • 2
  1. 1.Laboratoire d’Anthropologie MoléculaireInstitut de Médecine LégaleStrasbourg CedexFrance
  2. 2.Laboratoire d’Anthropobiologie, FRE 2960 CNRSUniversité Paul SabatierToulouseFrance

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