Analysis of the beta-globin gene in DNA of suspected thalassemic great apes

Abstract

ABSTRACT. DNA was recovered from teeth of 2 great ape skeletons, Pan troglodytes (Ptr) and Pongo pygmaeus (Ppy), belonging to a 19th-century zoological collection. The skeletons presented morphological alterations possibly associated with β-thalassemia: Ptr had deformation of the calvaria and oro-maxillo-facial bones with porotic hyperostosis and extended osteoporotic lesions of the skeleton, while Ppy showed a general marked widening of the calvarial diploe but moderate osteoporotic signs on the post-cranial skeleton. We screened Ptr and Ppy for mutations in the β-globin gene (exons 1, 2, and 3) because we suspected thalassemia. Ptr β-globin sequences showed the highest degree of similarity with the human ones (99.8%), while those of Ppy were slightly different (98.2%). The results were consistent with the phylogenetic relationships between their β-globin gene sequences. We did not find any mutation in the β-globin gene of Ptr and Ppy; therefore, we conclude that, in spite of skeletal alterations, the 2 subjects analyzed were not affected by β-thalassemia.

A new investigative strategy to diagnose β-thalassemia syndrome in past human populations

“…The consequence of the ineffective erythropoiesis in thalassemic patients is a massive erythroid hyperplasia of the bone marrow. This results in an expanded mass of the RBCs precursors, which erode the cortical bone, compromise bone growth and cause skeletal abnormalities, including porotic hyperostosis of the skull (Myers et al 1986;Kumar et al 2011;Vuch et al 2013).…”