Premium
From a dry bone to a genetic portrait: A case study of sickle cell anemia
Author(s) -
Faerman Marina,
Nebel Almut,
Filon Dvora,
Thomas Mark G.,
Bradman Neil,
Ragsdale Bruce D.,
Schultz Michael,
Oppenheim Ariella
Publication year - 2000
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/(sici)1096-8644(200002)111:2<153::aid-ajpa2>3.0.co;2-o
Subject(s) - sickle cell anemia , genetics , biology , mitochondrial dna , thalassemia , population , haplotype , gene , genotype , cell , medicine , environmental health
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. β‐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. Am J Phys Anthropol 111:153–163, 2000. © 2000 Wiley‐Liss, Inc.