A novel α-globin gene arrangement in man (original) (raw)

Nature volume 284, pages 632–635 (1980)Cite this article

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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References

  1. Hunt, D. M. et al. Br. J. Haemat. (in the press).
  2. Orkin, S. H. et al. Cell. 17, 33–42 (1979).
    Article CAS Google Scholar
  3. Phillips, J. A. III et al. Blood 54, 1439–1445 (1979).
    PubMed Google Scholar
  4. Baglioni, C. Proc. natn. Acad. Sci. U.S.A. 48, 1880–1886 (1962).
    Article ADS CAS Google Scholar
  5. Orkin, S. H. Proc. natn. Acad. Sci. U.S.A. 75, 5950–5954 (1978).
    Article ADS CAS Google Scholar
  6. Embury, S. H. et al. J. Clin. Invest. 63, 1307–1310 (1979).
    Article CAS Google Scholar
  7. Weatherall, D. J. & Clegg, J. B. The Thalassaemia Syndromes 2nd edn (Blackwell, Oxford, 1972).
    Google Scholar
  8. Schwartz, E. New Engl. J. Med. 281, 1327–1333 (1969).
    Article CAS Google Scholar
  9. Gross-Bellard, M., Oudet, P. & Chambon, P. Eur. J. Biochem. 36, 21–38 (1973).
    Article Google Scholar
  10. Southern, E. M. J. molec. Biol 98, 503–517 (1975).
    Article CAS Google Scholar
  11. Wilson, J. T. et al. Nucleic Acids Res. 5, 563–581 (1978).
    Article CAS Google Scholar
  12. Maniatis, T., Jeffrey, A. & Kleid, D. G. Proc. natn. Acad. Sci. U.S.A. 72, 1184–1188 (1975).
    Article ADS CAS Google Scholar
  13. Laskey, R. A., & Mills, A. D. FEBS Lett. 82, 314–316 (1977).
    Article CAS Google Scholar
  14. Weatherall, D. J., Clegg, J. B. & Naughton, M. A. Nature 208, 1061–1065 (1965).
    Article ADS CAS Google Scholar
  15. Goossens, M. et al. Proc. natn. Acad. Sci. U.S.A. 77, 518–521 (1980).
    Article ADS CAS Google Scholar

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Authors and Affiliations

  1. 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

  1. D. R. Higgs
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  2. J. M. Old
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  3. L. Pressley
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  4. J. B. Clegg
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  5. D. J. Weatherall
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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

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