title: Analysis of the beta-globin gene in DNA of suspected thalassemic great apes.
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 Î²-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.
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Vuch
authors.forename: M S
authors.initials: MS
authors.lastname: Siori
authors.forename: M P
authors.initials: MP
authors.lastname: Bigatti
authors.forename: L
authors.initials: L
authors.lastname: Segat
authors.forename: G
authors.initials: G
authors.lastname: De Fabrizio
authors.forename: S
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001842:Bone and Bones / Q000473:pathology; D004247:DNA / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D006801:Humans; D016013:Likelihood Functions; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics*; D010802:Phylogeny; D011148:Pongo pygmaeus / Q000235:genetics*; D016415:Sequence Alignment; D012886:Skull / Q000473:pathology; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins; D004247:DNA