An ovine CFTR variant as a putative cystic fibrosis causing mutation. Issue 7 (July 1996)

• Record Type: Journal Article
• Authors: Tebbutt, S J; Harris, A; Hill, D F
• Is Part Of: Journal of medical genetics. Volume 33:Issue 7(1996)
• Page Start: 623
• Page End: 624
• Publication Date: 1996-07
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.7.623
• Languages: English
• ISSNs: 1468-6244

Abstract

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.