title: Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form.
abstract: 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.
authors.forename: F F
authors.initials: FF
authors.lastname: Chehab
authors.forename: G R
authors.initials: GR
authors.lastname: Honig
authors.forename: Y W
authors.initials: YW
authors.lastname: Kan
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D005006:Ethnicity; D005796:Genes; D006580:Genetic Carrier Screening; D005914:Globins / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009711:Nucleotides / Q000032:analysis*; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
chemical_list: D009711:Nucleotides; D005914:Globins; D004247:DNA