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Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy

Polona StabejDepartments of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 8, 3584 CM Utrecht, The Netherlands.

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Peter A. LeegwaterDepartments of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 8, 3584 CM Utrecht, The Netherlands.

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Arnold A. StokhofDepartments of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 8, 3584 CM Utrecht, The Netherlands.

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Aleksandra Domanjko-PetričClinic for Surgery and Small Animal Medicine, Veterinary Faculty, University of Ljubljana, Cesta v Mestni log 47, 1000 Ljubljana, Slovenia.

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Bernard A. van OostDepartments of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 8, 3584 CM Utrecht, The Netherlands.
Present address is the Department of Animals, Science and Society, Faculty of Veterinary medicine, Utrecht, University, Yalelaan 2, 3508 TD Utrecht.

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Abstract

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)

Abstract

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)