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

Am J Phys Anthropol. 2000 Feb;111(2):153-63. doi: 10.1002/(SICI)1096-8644(200002)111:2<153::AID-AJPA2>3.0.CO;2-O.

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. beta-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.

MeSH terms

  • Africa
  • Anemia, Sickle Cell / genetics*
  • Anthropology, Physical
  • DNA Fingerprinting*
  • DNA, Mitochondrial / genetics
  • Genetics, Population*
  • Humans
  • Male
  • Y Chromosome / genetics

Substances

  • DNA, Mitochondrial