Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form
Chehab, F.F.; Honig, G.R.; Kan, Y.W.
Lancet 1(8471): 3-5
1986
ISSN/ISBN: 0140-6736 PMID: 2867271 Document Number: 273062
The molecular basis of a spontaneous mutation causing .beta.-thalassaemia in a boy of north European descent was characterized. 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.