New Genetic Test for Bleeding disorders in Dogs
Genetic tests are playing an increasingly important role in today's dog breeding. They allow breeders to improve targeted mating in order to avoid genetic diseases in offsprings. In the past, intense selection for specific desirable traits and dog types has promoted a large number of genetic defects, which are passed on without any monitoring possibilities. Especially autosomal recessive mutations have been shown to cause essential problems for several dog breeds as genetic carriers cannot be phenotypically detected without any genetic testing.
Bleeding disorders represent a large group of diseases which are often not recognized in time before breeding decisions are made, especially due to the varying onsets of the diseases. The absence of coagulation factor I (fibrinogen) is described as afibrinogenemia. Typical clinical signs are prolonged clotting time, cord or mucosal bleeding, haematomas, haemarthroses or severe bleeding after trauma or surgery. As disorders such as congenital afibrinogenemia can produce severe or fatal bleeding diathesis, there is an urgent need for novel genetic markers that are predictive for such bleeding disorders.
The present invention allows to analyze a genetic defect causing afibrinogenemia in dogs. A particular and novel mutation in the FGA gene is perfectly associated with a severe form of afibrinogenemia. Perfect association has been validated across a large number of dogs from many different breeds. The mutation can be lethal for puppies in a homozygous state. Survival may be possible for short time with intense medical care. Dogs with a heterozygous genotype are healthy carriers but can pass on the mutation to their progeny. This new genetic test can avoid further spreading of this lethal mutation.
Genetic test for bleeding disorders in dogs (diagnostics).
The genetic test has been successfully tested and validated in Dachshunds including standard, miniature and rabbit size types as well as wire, smooth and long hair types.
A European patent application has been filed (Applicant: University of Veterinary Medicine Hannover, Foundation, Germany).
Dr. Stefan Uhle