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Principal Investigator: Dr. Marjory Brooks
Contact Information: E-Mail: mbb9@cornell.edu - Phone: 275-0622
Sponsor: American Kennel Club Canine Health Foundation
Title: Factor VIII Marker Genotyping for Hemophilia A Carrier
Detection in Golden Retrievers
Annual Direct Cost: $6,000
Project Period: 7/15/04-7/14/05
This study aims to prevent propagation of Hemophilia A (Factor VIII deficiency) in Golden Retrievers through application of molecular diagnostic techniques. Familial transmission of Hemophilia A has been recently recognized in this breed. Preliminary screening confirmed the diagnosis of Hemophilia A in more than a dozen males having clinical signs of mild to moderate severity bleeding diathesis. Recruitment for the proposed study will focus on the offspring, parents, and siblings of obligate and suspect carrier females. The test protocol will combine Factor VIII coagulation assays with genotyping for an intragenic Factor VIII marker in order to enhance the accuracy of female carrier detection. The genetic status of males will be assigned based on direct measurement of Factor VIII coagulant activity, allowing identification of the marker allele segregating with hemophilia. Females' carrier status will be assigned through pedigree review and linkage based on their genotype at the Factor VIII marker locus. This strategy will enable owners and breeders to preserve the desirable traits in a line affected with hemophilia while avoiding the unwitting use of asymptomatic males or carrier females.
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