2267: Linkage Analysis of Familial Subvalvular Aortic Stenosis in the Newfoundland Dog
Grant Status: Closed
AbstractSubvalvular Aortic Stenosis (SAS) is a familial congenital heart disease characterized by a fibrous ridge located below the aortic valve. Affected dogs are at risk of developing an infection on the aortic valve, congestive heart failure or sudden death. This is a familial defect in the Newfoundland dog; therefore affected dogs should not be bred. However, mildly affected dogs can be difficult to diagnose without Doppler echocardiography, an expensive test with limited availability. Therefore, there is significant interest in developing a genetic test to screen for SAS. The study proposed builds on a previous study funded by the AKC/CHF to recruit and screen families of Newfoundland dogs with SAS. Dogs have been classified as affected, unaffected but related to affected, or unaffected by Doppler echocardiography. Pedigrees and DNA samples have been collected on several small families. Additional recruitment of grandparents and siblings will complete these families. Genetic analysis will be performed using canine markers and DNA samples from these families. Genetic markers will be evaluated to determine if they are associated with SAS in the Newfoundland. The identification of a genetic marker linked to SAS will be the first step in the development of a DNA screening test.
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