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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 publication

DOI

10.1136/jmg.33.7.623

Type

Journal article

Journal

J Med Genet

Publication Date

07/1996

Volume

33

Pages

623 - 624

Keywords

Animals, Arginine, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Primers, Glutamine, Lymphocytes, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Sequence Analysis, Sheep