00801-A: Characterization of the Mutation Responsible for Fanconi Syndrome in Basenjis

Grant Status: Closed

Grant Amount: $12,892.91
Dr. Gary S. Johnson, DVM PhD, University of Missouri, Columbia
November 1, 2006 - October 31, 2007
Sponsor(s): Akita Club of America, Inc., American Brittany Club, American Cavalier King Charles Spaniel Club Charitable Trust, English Springer Spaniel Field Trial Association, Keeshond Club of America, National Beagle Club, National Redbone Coonhound Association, Yorkshire Terrier Club of America
Breed(s): Basenji
Research Program Area: Prevention

Abstract

We have been working to characterize the mutation responsible for Fanconi Syndrome, a serious disease of the kidney, which has been fairly common in Basenjis for many years. The disease is recessive with symptoms seldom showing up until the dogs are over 4.5 years old. It is, therefore, very hard for Basenji breeders to avoid the disease by conventional breeding strategies. A DNA test that could identify affected and carrier Basenjis as puppies would provide Basenji breeders with a means of eradicating Fanconi Syndrome by selective breeding. Step one in creating a DNA test is to determine the chromosomal location of the mutation. We have completed that first step and localized to a segment of a specific chromosome that represents less than 2 percent of a dog's DNA. Because this segment of chromosome still contains over 200 genes, our next step is to further narrow the target region as much as possible. We will then examine selected genes within this narrowed region to find the mutation causing the disease. We will create a DNA assay that detects the mutant allele and validate the assay by testing the over 600 Basenji DNA samples in our collection.

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