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

Genet Mol Res. 2013 May 21;12(2):1731-9. doi: 10.4238/2013.May.21.4.

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.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Bone and Bones / pathology
  • DNA / genetics*
  • Electrophoresis, Agar Gel
  • Exons / genetics
  • Humans
  • Likelihood Functions
  • Molecular Sequence Data
  • Pan troglodytes / genetics*
  • Phylogeny
  • Pongo pygmaeus / genetics*
  • Sequence Alignment
  • Skull / pathology
  • beta-Globins / chemistry
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins
  • DNA