@article{1508,
  keywords = {bleeding disorder, factor VIII activity, mutation, PCR, protein modeling},
  author = {P Alcaraz Rodríguez and A Kehl and A Cecil and S Shityakov and T Dandekar and E Müller and R Mischke},
  title = {Canine haemophilia A caused by a thymine to cytosine nucleotide exchange at nucleotide position 6217 in a Great Dane},
  abstract = {A male Great Dane was referred to the Small Animal Clinic, University of Veterinary Medicine Hannover at seven months of age with a known bleeding history. The dog was diagnosed with haemophilia A (factor VIII activity: 4%). To identify the underlying genetic defect responsible for haemophilia in the patient, the coding region and exon-intron boundaries of the canine factor VIII gene were analysed by polymerase chain reaction and electrophoresis. 25 Great Danes and 25 individuals of three different breeds each served as controls. Sequence analysis of exon 21 of the canine FVIII gene of the patient showed a thymine to cytosine nucleotide exchange at nucleotide position 6217, which results in a tryptophan to arginine exchange. None of the remaining dogs studied showed the mutation. Analysis using several protein models demonstrated that the altered amino acid is located in the C1 domain of the canine FVIII protein and results in a change of the protein structure. To the knowledge of the authors, this is the first known mutation of the factor VIII gene in a Great Dane associated with haemophilia A.},
  year = {2017},
  journal = {Berliner und Münchener Tierärztliche Wochenschrift},
  volume = {130},
  month = {03/2017},
  publisher = {Schlütersche Verlagsgesellschaft mbH & Co. KG},
  address = {Hannover},
  issn = {0005-9366},
  doi = {10.2376/0005-9366-15121},
  language = {English},
}