An ovine CFTR variant as a putative cystic fibrosis causing mutation

Scott J. Tebbutt*, Ann Harris, Diana F. Hill

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

This report describes a DNA variant in the ovine cystic fibrosis transmembrane conductance regulator (CFTR) gene that has been previously reported as a putative cystic fibrosis causing mutation in humans. The variant is a guanine to adenine base change at position 1019 of the ovine CFTR cDNA, corresponding to an arginine (R) to glutamine (Q) amino acid substitution at position 297 in the predicted CFTR polypeptide. The equivalent R297Q mutation in exon 7 of the human CFTR gene has been reported in a CF patient. This is the first putative cystic fibrosis mutation to be detected in another animal species.

Original languageEnglish (US)
Pages (from-to)623-624
Number of pages2
JournalJournal of medical genetics
Volume33
Issue number7
DOIs
StatePublished - 1996

Keywords

  • Animal homologues
  • CFTR mutations
  • Cystic fibrosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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