From a dry bone to a genetic portrait: A case study of sickle cell anemia

Marina Faerman*, Almut Nebel, Dvora Filon, Mark G. Thomas, Neil Bradman, Bruce D. Ragsdale, Michael Schultz, Ariella Oppenheim

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

The potential and reliability of DNA analysis for the identification of human remains are demonstrated by the study of a recent bone sample, which represented a documented case of sickle cell anemia. β-globin gene sequences obtained from the specimen revealed homozygosity for the sickle cell mutation, proving the authenticity of the retrieved residual DNA. Further investigation of mitochondrial and Y chromosome DNA polymorphic markers indicated that this sample came from a male of maternal West African (possibly Yoruban) and paternal Bantu lineages. The medical record, which became available after the DNA analyses had been completed, revealed that it belonged to a Jamaican black male. These findings are consistent with this individual being a descendent of Africans brought to Jamaica during the trans-Atlantic slave trade. This study exemplifies how a 'reverse population genetics' approach can be applied to reconstruct a genetic profile from a bone specimen of an unknown individual. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)153-163
Number of pages11
JournalAmerican Journal of Physical Anthropology
Volume111
Issue number2
DOIs
StatePublished - Feb 2000

Keywords

  • β-globin gene
  • Ancient DNA
  • Mitochondrial DNA
  • Sex identification
  • Sickle cell anemia
  • Y chromosome polymorphic markers

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