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  • Author or Editor: Bernard A. van Oost x
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Objective—To investigate the possibility that variants in the acidic or basic keratin genes or in desmoglein 1 may cause the clinical manifestation of familial footpad hyperkeratosis in Irish Terriers.

Animals—11 dogs belonging to 2 related affected pedigrees of Irish Terriers.

Procedure—Genomic DNA was extracted from blood samples obtained from each dog. The DNA markers linked to the genes keratin 2, keratin 9, and desmoglein 1 were amplified by use of a polymerase chain reaction technique, and length of the products was determined by use of an automatic DNA analyzer.

Results—All tested markers yielded information. None of the markers (genotype) cosegregated with the clinical status of the dogs (phenotype) in the 2 pedigrees.

Conclusions and Clinical Relevance—Mutations in the genes encoding keratin 2 and 9 as well as desmoglein 1 are highly unlikely to be the primary cause of familial footpad hyperkeratosis in Irish Terriers. (Am J Vet Res 2003;64:715–720)

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in American Journal of Veterinary Research


Objective—To evaluate the role of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy (DCM).

Animals—6 dogs with DCM, including 2 Doberman Pinschers, 2 Newfoundlands, and 2 Great Danes.

Procedure—All dogs had clinical signs of congestive heart failure, and a diagnosis of DCM was made on the basis of echocardiographic findings. Blood samples were collected from each dog, and genomic DNA was isolated by a salt extraction method. Specific oligonucleotides were designed to amplify the promoter, exon 1, the 5'-part of exon 2 including the complete coding region, and part of intron 1 of the canine phospholamban gene via polymerase chain reaction procedures. These regions were screened for mutations in DNA obtained from the 6 dogs with DCM.

Results—No mutations were identified in the promoter, 5' untranslated region, part of intron 1, part of the 3' untranslated region, and the complete coding region of the phospholamban gene in dogs with DCM .

Conclusions and Clinical Relevance—Results indicate that mutations in the phospholamban gene are not a frequent cause of DCM in Doberman Pinschers, Newfoundlands, and Great Danes. (Am J Vet Res 2005;66:432–436)

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in American Journal of Veterinary Research