2304: Continued Investigation into the Molecular Genetic Causes of Canine Epilepsies
Grant Status: Closed
AbstractIn our on-going study of canine epilepsy, we have found that most canine epilepsy families do not follow the simple inheritance patterns described by Gregor Mendel. This suggests that epilepsy results when a dog inherits mutations in two or more different genes. Mutations involving two or more genes are also thought to be responsible for the vast majority of human epilepsy that occurs in families. Mendelian inheritance is encountered in rare types of human epilepsy and in many of these families the epilepsy-causing mutation has been found by genome mapping. We appear to have found Mendelian inheritance in at least one canine family and if this holds true we will attempt to map the mutation. One unexpected finding that is not seen in the human epilepsy families is the predominance of males among the affected dogs in several dog breeds. A similar inheritance pattern in human disease has been attributed to paired mutations on the X chromosome and in the mitochondrial DNA in these breeds. Our ultimate goal is to produce a DNA marker that breeders can use to avoid matings that will result in new generations of epileptic dogs.
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