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van Straten G Leegwater PA de Vries M van den Brom WE Rothuizen J 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2005,19(3):321-324
The pathogenesis of congenital portosystemic shunt (CPSS) in dogs still is incompletely understood. In Irish Wolfhounds and Yorkshire Terriers, CPSS is reported to be hereditary. The aim of this study was to investigate a possible genetic basis and the mode of inheritance of CPSS in Cairn Terriers. Between July 1990 and July 2001, 6-week-old pups of the Dutch Cairn Terrier population were screened by measuring venous ammonia concentrations and in the presence of hyperammonemia by ultrasonography, autopsy, portal vein angiography, or exploratory celiotomy. The same successfully operated female was used 3 times in test matings with an unrelated affected male, her unaffected sire, and an affected offspring. The prevalence of CPSS in the general Cairn Terrier population, the direct progeny of frequently used males, and the offspring of the test matings were tested for significant differences. In total, 6,367 Cairn Terriers were screened; 32 males and 26 females had CPSS. In 3 large family groups, significantly higher prevalences were found compared with the general population (P < .0001, P < .0001, and P < .044). The prevalence of CPSS in the offspring of the test matings was significantly higher (P < .002) than in the general population. No sex predisposition occurred among the affected dogs. The higher prevalence of CPSS in the test matings and the 3 family groups compared with the general population indicates that CPSS in Cairn Terriers is a genetic disease. The inheritance is autosomal and most likely polygenic or monogenic with variable expression. 相似文献
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Lavrijsen IC Heuven HC Voorhout G Meij BP Theyse LF Leegwater PA Hazewinkel HA 《Veterinary journal (London, England : 1997)》2012,193(2):486-492
Canine elbow dysplasia encompasses four developmental diseases: ununited anconeal process, osteochondrosis of the medial part of the humeral condyle, fragmented medial coronoid process (FCP), and incongruity of the elbow joint. Four radiographic views per joint were used to evaluate 2693 Labrador Retrievers (LRs), 1213 Golden Retrievers (GRs), and 974 Bernese Mountain Dogs (BMDs) for the presence of elbow dysplasia between 2002 and 2009 in the Netherlands. The views were also graded for signs of osteoarthritis and sclerosis. FCP was diagnosed most frequently in LRs, GRs and BMDs, with an incidence of 6%, 5%, and 15%, and a heritability of 0.17, 0.24, and 0.06, respectively. Heritabilities were estimated using a sire model and all available ancestors. Sclerosis at the base of the medial coronoid process was the radiographic sign most strongly correlated with FCP (r=0.95, 0.92, and 0.95 in LRs, GRs and BMDs, respectively). The sex of the dog was significantly correlated with the presence of osteoarthritis in LRs, but not in GRs and BMDs. Male LRs were 1.7-fold more frequently, but not more severely, affected by osteoarthritis than female dogs. Age at radiographic examination was significantly associated with osteoarthritis in all three breeds. The heritability estimates in Retrievers were high enough to warrant including FCP findings in the breeding policy, but until the biomechanical and genetic background of elbow dysplasia are better understood, correct phenotyping with a sensitive technique is essential. 相似文献
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F.G. van Steenbeek P.A.J. Leegwater F.J. van Sluijs H.C.M. Heuven J. Rothuizen 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2009,23(4):950-952
Background: The etiogenesis of congenital portosystemic shunt in dogs is not understood. In Irish Wolfhounds, intrahepatic portosystemic shunt (IHPSS) is thought to be hereditary, but the mode of inheritance is unknown.
Objectives: To document the genetic background and investigate the potential mode of inheritance of IHPSS in Irish Wolfhounds.
Animals: Three mature, privately owned, affected siblings and their progeny produced in 2 litters.
Methods: Prospective, observational study. Two test matings of 1 affected sire with 2 of his affected sisters were used to determine the inheritance pattern. Affection status was determined by measuring venous blood ammonia concentrations, detection of the shunt by ultrasonography and confirmation during surgical attenuation of the intrahepatic shunting vessel.
Results: In 1 litter of 5 pups all had an IHPSS. In the other litter 5 of 11 pups were affected. Both left- and right-sided shunts occurred in both litters. No sex predisposition was evident among affected dogs.
Conclusions and Clinical Importance: Our results show that IHPSS in Irish Wolfhounds is a familial disorder that is likely genetic. It is unlikely that the mode of inheritance is monogenic. A digenic, triallelic trait could explain the observed occurrence of IHPSS but other modes of inheritance cannot be excluded. 相似文献
Objectives: To document the genetic background and investigate the potential mode of inheritance of IHPSS in Irish Wolfhounds.
Animals: Three mature, privately owned, affected siblings and their progeny produced in 2 litters.
Methods: Prospective, observational study. Two test matings of 1 affected sire with 2 of his affected sisters were used to determine the inheritance pattern. Affection status was determined by measuring venous blood ammonia concentrations, detection of the shunt by ultrasonography and confirmation during surgical attenuation of the intrahepatic shunting vessel.
Results: In 1 litter of 5 pups all had an IHPSS. In the other litter 5 of 11 pups were affected. Both left- and right-sided shunts occurred in both litters. No sex predisposition was evident among affected dogs.
Conclusions and Clinical Importance: Our results show that IHPSS in Irish Wolfhounds is a familial disorder that is likely genetic. It is unlikely that the mode of inheritance is monogenic. A digenic, triallelic trait could explain the observed occurrence of IHPSS but other modes of inheritance cannot be excluded. 相似文献
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Stabej P Leegwater PA Stokhof AA Domanjko-Petric A van Oost BA 《American journal of veterinary research》2005,66(3):432-436
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. 相似文献
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Temwichitr J Hazewinkel HA van Hagen MA Leegwater PA 《Journal of veterinary medicine. A, Physiology, pathology, clinical medicine》2007,54(9):522-526
Defects in collagen proteins cause a variety of disorders in humans. It can be expected that collagen gene mutations are involved in collagenopathies in dogs. The collagen genes COL3A1, COL5A1, COL5A2, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COL10A1 and COL11A1 were identified on the canine genome based on the homology with the human genes. Simple sequence repeats (microsatellites) were found in the chromosomal regions of these genes and investigated for polymorphism in Labrador Retrievers, Bernese Mountain dogs, Boxer dogs and German Shepherd dogs by PCR and subsequent detection of the DNA products. Nine informative microsatellite markers were identified. The markers closely situated to COL9A1, COL9A2 and COL9A3 were used to investigate the involvement of the genes in cranial cruciate ligament rupture in Boxer dogs. It was found that these genes are probably not involved in this abnormality. The markers described here will be useful for a candidate gene approach of suspected collagenopathies specific to dog breeds. 相似文献
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Paroxysmal Dyskinesia in Border Terriers: Clinical,Epidemiological, and Genetic Investigations 
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