The structure of the human beta-globin gene in beta-thalassaemia.
AUTOR(ES)
Flavell, R A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=327890Documentos Relacionados
- Peripheral neuropathy in patients with beta-thalassaemia.
- A developmentally stable chromatin structure in the human beta-globin gene cluster.
- delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
- Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.
- Mutagenesis of retroviral vectors transducing human beta-globin gene and beta-globin locus control region derivatives results in stable transmission of an active transcriptional structure.
