From a Dry Bone to a Genetic Portrait: A Case Study of Sickle Cell Anemia

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. Keywords: ancient DNA; (beta)-globin gene; mitochondrial DNA; sex identification; Y chromosome polymorphic markers; sickle cell anemia