Analysis of the beta-globin gene in DNA of suspected thalassemic great apes
| Autor: | M.S. Siori, M.P. Bigatti, L. Segat, Sergio Crovella, Josef Vuch, G. De Fabrizio |
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| Přispěvatelé: | Vuch, Josef, Siori, M, Bigatti, Mp, Segat, Ludovica, De Fabrizio, G, Crovella, Sergio |
| Rok vydání: | 2013 |
| Předmět: |
Primates
beta-globin Pan troglodytes Beta thalassemia β-globin gene Genetic Primates Molecular Sequence Data thalassaemia Calvaria beta-Globins Biology medicine.disease_cause Bone and Bones Exon Pongo pygmaeus Genetic hemic and lymphatic diseases Genetics medicine Animals Humans Amino Acid Sequence Molecular Biology Gene Phylogeny Electrophoresis Agar Gel Mutation Likelihood Functions Base Sequence Skull beta-Thalassemia General Medicine DNA Exons medicine.disease Skeleton (computer programming) great apes medicine.anatomical_structure Sequence Alignment Porotic hyperostosis |
| Zdroj: | Genetics and molecular research : GMR. 12(2) |
| ISSN: | 1676-5680 |
| Popis: | 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 I²-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 I²-globin gene (exons 1, 2, and 3) because we suspected thalassemia. Ptr I²-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 I²-globin gene sequences. We did not find any mutation in the I²-globin gene of Ptr and Ppy; therefore, we conclude that, in spite of skeletal alterations, the 2 subjects analyzed were not affected by I²-thalassemia. |
| Databáze: | OpenAIRE |
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