Mutation of the initiation codon as a cause of betathalassaemia in a belgian family
(1991) Congrès International sur les maladies génétiques de l’Hémoglobine, — Location: Nice 68
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- Abstract
- Nine asymptomatic members of a family of Belgian origin, spanning three generations, present typical features of heterozygous beta-thalassemia. Since no mutation was detected with a large panel of oligonucleotide probes, the thalassemia gene was investigated by direct sequencing of DNA segments amplified by the polymerase chain reaction. A T->C transition was detected in the translation initiation codon (ATG). The mutation, which abolishes an Nco I restriction site, was further confirmed by enzymatic digestion as well as by dot-blot hybridization of the amplified products with allele-specific oligonucleotide probes. It produced a beta zero-thalassemia phenotype characterized by marked microcytosis and hypochromia, as well as by an in vitro beta/alpha chain synthesis ratio close to O.5. Search for haplotype linkage showed the mutation to be associated with haplotype IX + - + + + +.
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Wildmann, C., Larondelle, Y., Vaerman, J.-L., & Philippe, M. (1991). Mutation of the initiation codon as a cause of betathalassaemia in a belgian family. Congrès International sur les maladies génétiques de l’Hémoglobine, Nice 68. https://hdl.handle.net/2078.5/256163