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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.

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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
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  2. Haig H. Kazazian Jr
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  3. Stylianos E. Antonarakis
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  4. Sabra C. Goff
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  5. Corinne D. Boehm
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  6. Julianne P. Sexton
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  7. Pamela G. Waber
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  8. Patricia J. V. Giardina
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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

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