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

✍ Scribed by Faerman, Marina; Nebel, Almut; Filon, Dvora; Thomas, Mark G.; Bradman, Neil; Ragsdale, Bruce D.; Schultz, Michael; Oppenheim, Ariella

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 218 KB
• Volume: 111
• Category: Article
• ISSN: 0002-9483
• DOI: 10.1002/(sici)1096-8644(200002)111:2<153::aid-ajpa2>3.0.co;2-o

✦ Synopsis

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. ␤-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.