2462: Molecular Genetic Study of Fanconi Syndrome in Basenjis
Grant Status: Closed
AbstractThe Basenji Club of America considers Fanconi Syndrome the problem of highest priority in the 2001 Parent Club Survey. Our long-term goals are to identify the mutation responsible for Fanconi Syndrome in Basenjis and to use this information to design a DNA-based test for carriers of this disease. This test would enable Basenji breeders to avoid producing future generations of Basenjis with Fanconi Syndrome. Our specific objectives are (1) to isolate DNA from Basenjis with Fanconi Syndrome and their close relatives; (2) to evaluate variant sequences in mitochondrial DNA from an affected Basenji as possible causes of Fanconi Syndrome; (3) to evaluate a region of canine chromosome 30 that corresponds to a chromosomal region responsible for human Fanconi Syndrome locus and, if necessary, to extend the evaluation to cover the entire chromosome; and (4) to establish an internet website for recruiting DNA samples and disseminating information about Fanconi Syndrome and its management. The proposed experiments should localize the Basenji Syndrome locus if it is in the mitochondrial genome or on canine chromosome 30. If the Fanconi locus is elsewhere in the nuclear genome, the proposed experiments should test the feasibility of finding it by whole-genome mapping in future studies.
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