The structure of the human β-globin gene in β-thalassaemia

Abstract

Twenty-one cases of β⁰- and β⁺-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the β- and δ-globin genes could be detected. However, in a single Asian case of β⁰-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a β-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the β-globin coding sequence.