The structure of the human beta-globin gene in beta-thalassaemia.
Twenty-one cases of beta 0 and beta +-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the beta- and delta-globin genes could be detected. However, in a single Asian case of beta 0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a beta-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 beta-globin coding sequence.
D004247:DNA / Q000097:blood; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000096:biosynthesis*; D006720:Homozygote; D006801:Humans; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes