Open AccessThe structure of the human β-globin gene in β-thalassaemia
Author(s) -
Richard A. Flavell,
R. Bernards,
J.M. Kooter,
Ernie de Boer,
P.F.R. Little,
G. Annison,
Robert 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.