title: From a dry bone to a genetic portrait: a case study of sickle cell anemia.
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.
authors.affiliation: Laboratory of Biological Anthropology and Ancient DNA, Hebrew University-Hadassah School of Dental Medicine, 91120 Jerusalem, Israel. marinaf@pob.huji.ac.il
authors.forename: M
authors.initials: M
authors.lastname: Faerman
authors.forename: A
authors.initials: A
authors.lastname: Nebel
authors.forename: D
authors.initials: D
authors.lastname: Filon
authors.forename: M G
authors.initials: MG
authors.lastname: Thomas
authors.forename: N
authors.initials: N
authors.lastname: Bradman
authors.forename: B D
authors.initials: BD
authors.lastname: Ragsdale
authors.forename: M
authors.initials: M
authors.lastname: Schultz
authors.forename: A
authors.initials: A
authors.lastname: Oppenheim
mesh_terms: D000349:Africa; D000755:Anemia, Sickle Cell / Q000235:genetics*; D000885:Anthropology, Physical; D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D008297:Male; D014998:Y Chromosome / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial