Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene.
We report here the results of a preliminary screening programme to identify natural mutations in the ovine cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nine regions of the ovine CFTR gene were screened, corresponding to human CFTR gene exons 4, 6b, 7, 9, 10, 11, 12, 17b and 20. DNA samples from up to 2000 individual sheep were examined by single-stranded conformation polymorphism (SSCP) of each exon. In addition to the mutation (R297Q) reported previously, we have found several interesting variants, including intronic DNA variants and exonic polymorphisms.
Department of Biochemistry, University of Otago, Dunedin, New Zealand. tebbutts@sanger.otago.ac.nz
S J
SJ
Tebbutt
M B
MB
Lakeman
J C
JC
Wilson-Wheeler
D F
DF
Hill
D000818:Animals; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004195:Disease Models, Animal; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005796:Genes; D005820:Genetic Testing / Q000662:veterinary; D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012756:Sheep / Q000235:genetics*
C505032:CFTR protein, human; D018076:DNA, Complementary; D019005:Cystic Fibrosis Transmembrane Conductance Regulator