Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form

Lancet. 1986 Jan 4;1(8471):3-5. doi: 10.1016/s0140-6736(86)91892-1.


The molecular basis of a spontaneous mutation causing beta-thalassaemia in a boy of north European descent was characterised. The codon at the beta 39 position had mutated from CAG (glutamine) to the stop codon TAG. This nonsense mutation occurs commonly in a hereditary form of beta-thalassaemia in the Mediterranean area; its production by a spontaneous mutation suggests that this region of the beta-globin gene is a mutational hot spot.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Cloning, Molecular
  • DNA / analysis
  • Ethnicity
  • Genes
  • Genetic Carrier Screening
  • Globins / analysis
  • Globins / genetics*
  • Humans
  • Male
  • Mutation*
  • Nucleic Acid Hybridization
  • Nucleotides / analysis*
  • Phenotype
  • Thalassemia / genetics*


  • Nucleotides
  • Globins
  • DNA