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 hum an remains are demonstrated by the study of a recent bone sample, which rep resented a documented case of sickle cell anemia. beta-globin gene sequence s obtained from the specimen revealed homozygosity for the sickle cell muta tion, proving the authenticity of the retrieved residual DNA. Further inves tigation of mitochondrial and Y chromosome DNA polymorphic markers indicate d that this sample came from a male of maternal West African (possibly Yoru ban) and paternal Bantu lineages. The medical record, which became availabl e after the DNA analyses had been completed, revealed that it belonged to a Jamaican black male. These findings are consistent with this individual be ing a descendent of Africans brought to Jamaica during the trans-Atlantic s lave trade. This study exemplifies how a "reverse population genetics" appr oach can be applied to reconstruct a genetic profile from a bone specimen o f an unknown individual. (C) 2000 Wiley-Liss, Inc.