1440: Evaluating the Causative Mutation for von Willebrand's Disease in the Doberman Pinscher and Its Possible Role in Other Breeds
Grant Status: Closed
This research was responsible for the development of five genetic tests for von Willebrand's disease (vWD). vWD is an inherited bleeding disorder that is seen frequently in Doberman Pinschers. In Dobermans, it is autosomal recessive (affected dogs receive one mutated gene from each parent). Researchers determined that Dobermans have a very high frequency of this mutation - 25 percent are affected, 50 percent are non-bleeding carriers, and only 25 percent are clear - which in affected animals produces type I vWD (mild bleeding risk). They compared the results of the DNA test to von Willebrand factor (vWF) assays that measure the vWF protein in the blood. They found the vWF assay to be a poor test to determine whether a Doberman is affected, a carrier, or completely normal. In addition, researchers found that four other breeds, Manchester Terriers, Poodles, Bernese Mountain Dogs, and Pembroke Welsh Corgis, have the identical genetic mutation for vWD to that in Dobermans, making the genetic test developed for Dobermans available to those breeds as well.
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