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

Richard A. Flavell | Zendy; René Bernards | Zendy; J.M. Kooter | Zendy; Ernie de Boer | Zendy; P.F.R. Little | Zendy; G. Annison | Zendy; R. Williamson | Zendy

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

Author(s) -

Richard A. Flavell,

René Bernards,

J.M. Kooter,

Ernie de Boer,

P.F.R. Little,

G. Annison,

R. Williamson

Publication year - 1979

Publication title -

nucleic acids research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.008

H-Index - 537

eISSN - 1362-4954

pISSN - 0305-1048

DOI - 10.1093/nar/6.8.2749

Subject(s) - biology , ecori , genetics , gene , restriction enzyme , globin , coding region , microbiology and biotechnology , base pair , dna , restriction map , nucleic acid sequence

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.

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