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- Publisher
- Springer Journals
- Copyright
- Copyright © 1983 by Nature Publishing Group
- Subject
- Science, Humanities and Social Sciences, multidisciplinary; Science, Humanities and Social Sciences, multidisciplinary; Science, multidisciplinary
- ISSN
- 0028-0836
- eISSN
- 1476-4687
- DOI
- 10.1038/306662a0
- Publisher site
- See Article on Publisher Site
Abstract
The β-globin gene present on the deletion locus in a Dutch γβ-thalassaemic patient was found to be identical to the normal β-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected β-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the β-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.
Journal
Nature – Springer Journals
Published: Dec 15, 1983