Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Nature volume 296, pages 627–631 (1982)Cite this article

Abstract

Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms with particular flanking polymorphisms. A systematic study of cloned genes identified several new mutations, one of which possibly affects transcription. The strategy used may be applicable to other diseases of single-copy genes.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Weatherall, D. J. & Clegg, J. B. The Thalassaemia Syndromes 3rd edn (BJackwell, Oxford, 1981).

    Google Scholar 

  2. Orkin, S. H. & Nathan, D. G. in Advances in Human Genetics Vol. 11 (eds Harris, H. & Hirschhorn, K.) 233–280 (Plenum, New York, 1981).

    Google Scholar 

  3. Orkin, S. H., Old, J. M., Weatherall, D. J. & Nathan, D. G. Proc. natn. Acad. Sci. U.S.A. 76, 2400–2404 (1979).

    Article  ADS  CAS  Google Scholar 

  4. Flavell, R. A. et al. Nucleic Acids Res. 6, 2749–2760 (1978).

    Article  Google Scholar 

  5. Orkin, S. H., Kolodner, R., Michelson, A. & Husson, R. Proc. natn. Acad. Sci. U.S.A. 77, 3558–3562 (1980).

    Article  ADS  CAS  Google Scholar 

  6. Chang, J. C. & Kan, Y. W. Proc. natn. Acad. Sci. U.S.A. 76, 2886–2889 (1979).

    Article  ADS  CAS  Google Scholar 

  7. Orkin, S. H. & Goff, S. C. J. biol. Chem. 256, 9782–9784 (1981).

    CAS  PubMed  Google Scholar 

  8. Moschonas, N. et al. Nucleic Acids Res. 9, 4391–4401 (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Trecartin, R. F. et al. J. clin. Invest. 68, 1012–1017 (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Spritz, R. A. et al. Proc. natn. Acad. Sci. U.S.A. 78, 2455–2459 (1981).

    Article  ADS  CAS  Google Scholar 

  11. Westaway, D. & Williamson, R. Nucleic Acids Res. 9, 1777–1788 (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Baird, M. et al. Proc. natn. Acad. Sci. U.S.A. 78, 4218–4221 (1981).

    Article  ADS  CAS  Google Scholar 

  13. Kan, Y. W. & Dozy, A. M. Proc. natn. Acad. Sci. U.S.A. 75, 5631–5635 (1978).

    Article  ADS  CAS  Google Scholar 

  14. Jeffreys, A. J. Cell 18, 1–10 (1979).

    Article  CAS  PubMed  Google Scholar 

  15. Kan, Y. W., Lee, K. Y. & Furbetta, M. New Engl. J. Med. 302, 185–188 (1980).

    Article  CAS  PubMed  Google Scholar 

  16. Antonarakis, S. E., Boehm, C. D., Giardina, P. J. V. & Kazazian, H. H. Jr Proc. natn. Acad. Sci. U.S.A. 79, 137–141 (1982).

    Article  ADS  CAS  Google Scholar 

  17. Driscoll, M. C., Baird, M., Bank, A. & Rachmilewitz, E. A. J. clin. Invest. 68, 915–919 (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Rimm, D. L., Hovness, D., Kucera, J. & Blattner, F. R. Gene 12, 301–309 (1980).

    Article  CAS  PubMed  Google Scholar 

  19. Lawn, R. M., Efstratiadis, A., O'Connell, C. & Maniatis, T. Cell 21, 647–651 (1980).

    Article  CAS  PubMed  Google Scholar 

  20. Busslinger, M., Moschonas, N. & Flavell, R. A. Cell 27, 289–298 (1981).

    Article  CAS  PubMed  Google Scholar 

  21. Breathnach, R. & Chambon, P. A. Rev. Biochem. 50, 349–383 (1981).

    Article  CAS  Google Scholar 

  22. Efstratiadis, A. et al. Cell 21, 653–668 (1980).

    Article  CAS  PubMed  Google Scholar 

  23. McKnight, S. L., Gavis, E. R., Kingsbury, R. & Axel, R. Cell 25, 385–398 (1981).

    Article  CAS  PubMed  Google Scholar 

  24. Benoist, C. & Chambon, P. Nature 290, 304–309 (1981).

    Article  ADS  CAS  PubMed  Google Scholar 

  25. Roberts, R. Meth. Enzym. 65, 1–15 (1980).

    Article  CAS  PubMed  Google Scholar 

  26. Kazazian, H. H. Jr. et al. Blood 56, 926–930 (1980).

    PubMed  Google Scholar 

  27. Little, P. F. R. et al. Nature 285, 144–147 (1980).

    Article  ADS  CAS  PubMed  Google Scholar 

  28. Geever, R. F. et al. Proc. natn. Acad. Sci. U.S.A. 78, 5081–5085 (1981).

    Article  ADS  CAS  Google Scholar 

  29. Orkin, S. H., Little, P. F. R., Kazazian, H. H. Jr & Boehm, C. D. New Engl. J. Med. (submitted).

  30. Blattner, F. R. et al. Science 202, 1279–1284 (1978).

    Article  ADS  CAS  PubMed  Google Scholar 

  31. Benton, W. D. & Davis, R. W. Science 196, 180–182 (1977).

    Article  ADS  CAS  PubMed  Google Scholar 

  32. Maxam, A. M. & Gilbert, W. Meth. Enzym. 65, 499–560 (1980).

    Article  CAS  PubMed  Google Scholar 

  33. Wilson, J. T. et al. Nucleic Acids Res. 5, 563–581 (1978).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Southern, E. M. J. molec. Biol. 98, 503–577 (1975).

    Article  CAS  PubMed  Google Scholar 

  35. Fritsch, E. F., Lawn, R. M. & Maniatis, T. Cell 19, 959–972 (1980).

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Harvard Medical School and Division of Hematology and Oncology, the Children's Hospital Medical Center and the Sidney Farber Cancer Institute, Boston, Massachusetts, 02115, USA

    Stuart H. Orkin, Sabra C. Goff & Julianne P. Sexton

  2. The Johns Hopkins University School of Medicine and the Pediatric Genetics Unit, The Johns Hopkins Hospital, Baltimore, Maryland, 21205, USA

    Haig H. Kazazian Jr, Stylianos E. Antonarakis, Corinne D. Boehm & Pamela G. Waber

  3. Division of Pediatric Hematology–Oncology, New York Hospital, and Cornell Medical Center, New York, New York, 10021, USA

    Patricia J. V. Giardina

Authors
  1. Stuart H. Orkin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Haig H. Kazazian Jr
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Stylianos E. Antonarakis
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sabra C. Goff
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Corinne D. Boehm
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Julianne P. Sexton
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Pamela G. Waber
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Patricia J. V. Giardina
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Orkin, S., Kazazian, H., Antonarakis, S. et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296, 627–631 (1982). https://doi.org/10.1038/296627a0

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/296627a0

This article is cited by

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing