Our ultimate goal is to develop a mutation-based test for JDCM. There are several difficulties with JDCM, especially compared with other genetic diseases that affect your breed. Because the diagnosis of affected animals is often made after it is no longer possible to obtain blood or tissue, the most useful DNA samples cannot be obtained and therefore the strength of the pedigrees we have to work with is diminished.
Disease gene determination is often aided by finding the disease in other breeds, but this is not the case with JDCM. Despite these limitations, our goal is that we will have identified one or a battery of markers that can be used to detect the chromosomal region that contains the JDCM disease-causing allele, however, we have no way to anticipate what the “false allele” frequency will be. That has been predetermined by the breeding history of Portuguese Water Dogs and the situation may exist that we will not be able to provide a specific test until we find the mutation itself.
Co-sponsored research with the Portuguese Water Dog Club of America, Inc.
A linked marker test was developed which can use either a blood sample or a cheek swab is available from the University of Pennsylvania.
Meg Sleeper, VMD
Paula Henthorn, PhD
University of Pennsylvania