00336A: Mapping of the Gene for Malignant Histiocytosis in the Bernese Mountain Dog

Abstract

We are interested in finding the genes that predispose the Bernese Mountain Dog (BMD) to malignant histiocytosis (MH) for three reasons. First, we are interested in improving the health of this increasingly popular breed, which is severely affected by this deadly disease. Finding the underlying disease gene will lead to the development of genetic tests that can ultimately generate improvements in breeding programs. Second, once we know the underlying cause of MH we can begin to work toward targeted therapies that improve both life, quality and duration for affected dogs. Finally, we are interested in the genetics of similar disorders affecting humans. We propose two complementary strategies: 1) Family based linkage analysis to track the disease gene in a large BMD family affected with MH; and 2) An association-based linkage study encompassing a minimum of 119 affected and at least 100 unaffected control dogs. Both approaches can be expected to highlight regions of the genome where a gene of interest may lie. In summary, these approaches will allow us to eliminate false positive results, increase statistical power for fine linkage mapping, and provide a large resource for mutation screening.

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