A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Xavier P. Estivill, Martin Farrall, Peter J. Scambler, Gillian M. Bell, Kim M.F. Hawley, Nicholas J. Lench, Gillian P. Bates, Helena C. Kruyer, Patience A. Frederick, Philip Stanier, Eila K. Watson, Robert Williamson, Brandon J. Wainwright

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Abstract

A genomic sequence close to the cystic fibrosis locus with the characteristics of an HTF island has been selectively cloned and characterized. Two markers flanking this sequence, which is conserved throughout mammalian evolution, show a very much greater disequilibrium than that found with any existing marker. A single mutational event accounts for most cases of cystic fibrosis. The sequence is expressed, and is a candidate for the cystic fibrosis gene.

Original languageEnglish
Pages (from-to)840-845
Number of pages6
JournalNature
Volume326
Issue number6116
Publication statusPublished - 1987
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)
  • General

Cite this

Estivill, X. P., Farrall, M., Scambler, P. J., Bell, G. M., Hawley, K. M. F., Lench, N. J., Bates, G. P., Kruyer, H. C., Frederick, P. A., Stanier, P., Watson, E. K., Williamson, R., & Wainwright, B. J. (1987). A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature, 326(6116), 840-845.