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

Authors:
M Faerman, A Nebel, D Filon, M G Thomas, N Bradman, B D Ragsdale, M Schultz, A Oppenheim
Year of publication:
2000
Volume:
111
Issue:
2
Issn:
0002-9483
Journal title abbreviated:
AM J PHYS ANTHROPOL
Journal title long:
American journal of physical anthropology
Impact factor:
2.402
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.