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

Stuart H. Orkin, Haig H. Kazazian, Stylianos E. Antonarakis, Sabra C. Goff, Corinne D. Boehm, Julianne P. Sexton, Pamela G. Waber, Patricia J.V. Giardina

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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.

Original languageEnglish (US)
Pages (from-to)627-631
Number of pages5
JournalNature
Volume296
Issue number5858
DOIs
StatePublished - Dec 1 1982

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    Orkin, S. H., Kazazian, H. H., Antonarakis, S. E., Goff, S. C., Boehm, C. D., Sexton, J. P., Waber, P. G., & Giardina, P. J. V. (1982). Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature, 296(5858), 627-631. https://doi.org/10.1038/296627a0