Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene

Mutat Res. 1998 May;382(3-4):93-8. doi: 10.1016/s1383-5726(97)00012-5.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Disease Models, Animal
  • Exons / genetics
  • Gene Frequency
  • Genes
  • Genetic Testing / veterinary
  • Genetic Variation*
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Sheep / genetics*

Substances

  • CFTR protein, human
  • DNA, Complementary
  • Cystic Fibrosis Transmembrane Conductance Regulator

Associated data

  • GENBANK/AF022447
  • GENBANK/AF022448
  • GENBANK/AF022449
  • GENBANK/AF022450
  • GENBANK/AF022451
  • GENBANK/AF022452
  • GENBANK/AF022453
  • GENBANK/AF022454
  • GENBANK/AF022455