The isolation, mapping and transcription in vitro of a beta 0-thalassaemia globin gene

The red blood cell precursors of a patient with homozygous beta 0-thalassaemia have previously been shown to contain nuclear, but not cytoplasmic, beta-globin-specific transcripts. We describe the isolation of a beta-globin gene from this patient as a recombinant bacteriophage chromosome. Restriction-enzyme cleavage-site mapping experiments demonstrate no detectable deletions, insertions or major rearrangements in this thalassaemia gene. Two different techniques show that the gene isolated is transcribed as efficiently in vitro as the normal beta-globin gene.