A novel α-globin gene arrangement in man (original) (raw)
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- Published: 17 April 1980
Nature volume 284, pages 632–635 (1980)Cite this article
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Abstract
The human genome has two linked _α_-globin genes on chromosome 16. Deletion of one or more of them, as occurs in α-thalassaemia, leads to a reduced output of _α_-globin mRNA in proportion to the number of _α_-globin genes lost1. In some racial groups deletion of one of the pair of _α_-globin genes may result from unequal crossing over between the genes on homologous chromosomes2,3 by a mechanism resembling that postulated for the formation of the δβ fusion genes of the Lepore haemoglobins4. By analogy, the opposite chromosome in this cross-over should have three _α_-globin genes just as the ‘anti-Lepore’ chromosome has three non-_α_-chain genes. We describe here a Welsh family in which three members have five _α_-globin genes—three on one chromosome and two on the other. The additional α gene results in an increased α mRNA output and it may therefore produce the phenotype of mild _β_-thalassaemia.
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Authors and Affiliations
- MRC Molecular Haematology Unit, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK
D. R. Higgs, J. M. Old, L. Pressley, J. B. Clegg & D. J. Weatherall
Authors
- D. R. Higgs
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Higgs, D., Old, J., Pressley, L. et al. A novel _α_-globin gene arrangement in man.Nature 284, 632–635 (1980). https://doi.org/10.1038/284632a0
- Received: 10 December 1979
- Accepted: 25 February 1980
- Issue Date: 17 April 1980
- DOI: https://doi.org/10.1038/284632a0
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