Swab a Scotty

Humans and various dog breeds are victims of von Willebrand’s disease (vWD), which is a hereditary bleeding disorder. The disease is caused by a defect of the clotting factor von Willebrand factor (vWF) and is characterised by serious bleeding episodes that are often fatal. There are three types of vWD, type three is the most severe form, described by the complete absence of vWF in the blood of homozygous affected individuals, and in reduced amounts in heterozygotes. Scottish terrier’s are primarily affected by this type of the disease with the prevalence estimation among the species being 18% to 30%. This type of Von Willebrand’s disease is an autosomal recessive trait and because of genetic investigations can now become a disease of the past for Scottish terrier breeders, with the development of a DNA test to detect both homozygous affected dogs and heterozygous carriers that requires a simple swab of cheek cells. Type three vWD in Scottish terriers is remarkably similar to the type three in human vWD sufferers which plays a key role in this veterinary advancement.

To develop the test, infected vWD tissue was obtained and through polymerase chain reaction (PCR), using primers sequenced from human genes, the complete amino acid sequence of that deoxyribonucleic acid (DNA) was derived. Amplification identified the single base deletion responsible for vWD in the Scottish terrier. Researchers used this concise identification to create a mutation based DNA laboratory test. Apart from the direct benefits to dog breeders, this development is one of significance, as it incorporates human genomics into veterinary treatment.


Key References:

Venta, P.J., Li, J., Yuzbasiyan-Gurkan, V., Brewer, G.J., Schall, W.D., 2000. Mutation causing von Willebrand’s disease in Scottish terriers. Veterinary Internal Medicine Journal 14, 10.

Patterson, D.F., 2000. Companion animal medicine in the age of medical genetics. Veterinary Internal Medicine Journal 14, 1.

Elizabeth Hoffman