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.
Faerman
M
M
Laboratory of Biological Anthropology and Ancient DNA, Hebrew University-Hadassah School of Dental Medicine, 91120 Jerusalem, Israel. marinaf@pob.huji.ac.il
Nebel
A
A
Filon
D
D
Thomas
M G
MG
Bradman
N
N
Ragsdale
B D
BD
Schultz
M
M
Oppenheim
A
A
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
D004272:DNA, Mitochondrial