Hereditary spectrin deficiency in Golden Retriever dogs

Spectrin deficiency with increased erythrocyte osmotic fragility (OF) is a hallmark of hereditary spherocytosis, which is the most common congenital hemolytic anemia in humans of northern European ancestry. A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. In addition, OF was increased in 23 (17%) of 134 randomly chosen Golden Retrievers with nonhematologic diseases. In these Golden Retrievers, the spectrin concentration was decreased in 5 dogs with increased OF and within the reference range in 6 dogs with normal OF, indicating that in this population spectrin deficiency and increased OF are highly associated (P < .002). Considering these patients a representative sample of the Golden Retriever population in the Netherlands, spectrin deficiency may occur in 11.2-24.6% of Dutch Golden Retrievers (confidence level = 0.95). In blood smears, spherocytes were recognized only in dogs with immune-mediated anemia. At scanning electron microscopy, blood from spectrin-deficient Golden Retrievers showed slight crenation when fixed freshly but abundant echinospherocytes after 24 hours of incubation. We conclude that occult autosomal dominant spectrin deficiency occurs in dogs and is frequent in Dutch Golden Retrievers. It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans.     

Inheritance of cricopharyngeal dysfunction in Golden Retrievers

OBJECTIVE: To characterize a genetic component to cricopharyngeal dysfunction (CD) in Golden Retrievers. ANIMALS: 117 dogs. PROCEDURE: The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for > or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis. All survey radiographic and videofluoroscopic studies were reviewed by the same radiologist. RESULTS: Of the 117 dogs (47 males and 70 females) with a CD phenotype determined via videofluoroscopy, 21 dogs (18.0%) had abnormalities of the UES (affected). Of these 21 dogs, 9 were males (19.1% of all males) and 12 were females (17.1% of all females). The heritability of CD in a threshold model was estimated as 0.61, which established that CD could be passed from parent to offspring. Results of complex segregation analysis suggested that a single recessive allele of large effect contributed to the expression of this disease in Golden Retrievers. CONCLUSIONS AND CLINICAL RELEVANCE: The determination that CD is inherited in Golden Retrievers is an important step in providing information for veterinarians attending dogs with this disorder. Breeders also require this information to make informed breeding decisions.     

Bartonella DNA in the blood and lymph nodes of Golden Retrievers with lymphoma and in healthy controls

BACKGROUND: Although lymphoma is the most common neoplastic process reported in dogs, its precise etiology is unknown. Golden Retrievers are more likely to develop lymphoma, suggesting a breed predisposition; however, other factors, including environment, immunity, and infection, are likely contributors to oncogenesis. HYPOTHESIS: We hypothesized that the development of lymphoma in Golden Retrievers may be associated with vector-borne infections, specifically Bartonella, Anaplasma, or Ehrlichia species infections. ANIMALS: Golden Retrievers with lymphoma and healthy Golden Retrievers from across the United States were recruited for study participation. METHODS: A matched, case-control study was performed to determine the association of lymphoma and the presence of Bartonella, Anaplasma, and Ehrlichia species in serum, blood, and lymph node aspirates. RESULTS: Using PCR analyses and DNA sequencing, single and coinfections with Bartonella henselae, Bartonella elizabethae, Bartonella quintana, and/or Bartonella vinsonii (berkhoffii) were detected in the blood and lymph node aspirates of Golden Retrievers with lymphoma (5/28 dogs, 18%) and in healthy Golden Retrievers (10/56 dogs, 18%); no Anaplasma or Ehrlichia DNA was detected in any dog. When compared with dogs with lymphoma, a higher (P <.001) proportion of healthy Golden Retrievers were receiving monthly acaricide treatments (2.6 times higher). CONCLUSIONS AND CLINICAL IMPORTANCE: Bartonella DNA can be detected in blood and lymph nodes; importantly, in this report, Bartonella was detected in the same proportion of clinically healthy dogs and dogs with lymphoma. Longitudinal studies should be conducted to determine the mode of transmission of Bartonella in dogs, whether lymphatic infection is persistent, or whether these bacteria may contribute to the development of lymphoma.     

Characterization and prevalence of cataracts in Labrador Retrievers in The Netherlands

OBJECTIVE: To assess the prevalence and distribution of types of cataract, investigate the effects of selective breeding on cataract development, and identify the relationship between posterior polar cataract and other types of cortical cataracts in Labrador Retrievers in The Netherlands. ANIMALS: 9,017 Labrador Retrievers. PROCEDURES: Records of 18,283 ophthalmic examinations performed by veterinary ophthalmologists from 1977 through 2005 were reviewed. There were 522 dogs affected by hereditary cataracts in 1 or both eyes without progressive retinal atrophy (PRA) and 166 PRA-affected dogs with cataracts. These cataracts were divided into 3 groups: posterior polar (triangular) cataract, extensive immature and mature cataract, and a miscellaneous group. Dogs with PRA were analyzed separately. RESULTS: From 1980 through 2000, the prevalence of hereditary cataracts was stable at 8%. The prevalence of cataracts in offspring of cataract-affected dogs was significantly increased, compared with the prevalence in offspring of nonaffected dogs. The distribution of types of cataract was significantly different between dogs with primary cataracts and PRA-affected dogs. Dogs with posterior polar (triangular) cataracts produced affected offspring with the same distribution of types of cataracts as the entire population of primary cataract-affected dogs. CONCLUSIONS AND CLINICAL RELEVANCE: Cataract development in the Labrador Retriever population in The Netherlands appears to be a predominantly genetic disorder. Posterior polar (triangular) cataracts appear to be related to other types of hereditary cataract. Although there is no conclusive evidence, it seems valid to continue exclusion of all Labrador Retrievers affected by any type of primary cataract from breeding.     

Quantification of measurement of femoral head coverage and Norberg angle within and among four breeds of dogs

OBJECTIVE: To report values for percentage coverage of the femoral head (PC) and Norberg angle (NA) in 4 common breeds of dogs and to determine values for each that distinguish between normal and dysplastic hip status on the basis of Orthopedic Foundation for Animals (OFA) hip evaluation. ANIMALS: 1,841 dogs 24 to 48 months of age that were Labrador Retrievers (455), Golden Retrievers (423), Rottweilers (545), or German Shepherd Dogs (418). PROCEDURE: Retrospective analysis of NA and PC measured from standard OFA ventrodorsal pelvic radiographs from 4 breeds of dog. RESULTS: Norberg angle ranged from 67.4 to 124.4 degrees for Labrador Retrievers, 59.7 to 128.6 degrees for Rottweilers, 70.2 to 119.4 degrees for Golden Retrievers, and 55.3 to 121.3 degrees for German Shepherd Dogs. The PC ranged from 6.5 to 79.9% for Labrador Retrievers, 5.7 to 79.5% for Rottweilers, 8.3 to 79.3% for Golden Retrievers, and 5.4 to 83.7% for German Shepherd Dogs. On the basis of logistic regression modeling for determining normal versus abnormal hip status for all 4 breeds, cutoff points for NA were <105 degrees and PC were <50%. CONCLUSIONS AND CLINICAL RELEVANCE: Results of our study indicate that cutoff points of NA of 105 degrees and PC of 50% do not differentiate normal versus dysplastic hip status. Each of the 4 breeds had different values for NA and PC that distinguished normal from dysplastic hip status.     

Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele.

OBJECTIVE: To develop a snapback method of single-strand conformation polymorphism (SSCP) analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele. ANIMALS: 20 Golden Retriever puppies from a colony with X-linked muscular dystrophy. PROCEDURE: DNA spanning the canine dystrophin mutation was amplified by means of a polymerase chain reaction (PCR), using a primer modified to have an additional sequence at the 5' terminus. The primer was designed so that 1 terminus of the single-stranded PCR product could anneal to the normal sequence flanking the region of the mutation in the allele but not in the mutant allele. True disease status of the dogs was determined by means of a PCR and restriction digest protocol. RESULTS: Snapback SSCP analysis allowed for accurate and unambiguous genotyping of unaffected, carrier, and affected dogs, whereas conventional SSCP analysis, using the unmodified primer, did not. Creatine kinase activities measured within 24 hours after birth were not consistent with genotype. CONCLUSION AND CLINICAL RELEVANCE: Snapback SSCP analysis provided a simple, fast, and accurate method for genotyping Golden Retrievers for the mutation known to cause X-linked muscular dystrophy.     

A novel movement disorder in related male Labrador Retrievers characterized by extreme generalized muscular stiffness

Objectives: To describe the clinical phenotype of a new motor disorder in Labrador Retrievers. Animals and Methods: Case series study. Seven young male Labrador Retrievers presented for evaluation of stiff gait. Results: All affected dogs had generalized muscular stiffness, persistent at rest and resulting in restricted joint movements. They showed a forward flexed posture, festinating gait, and bradykinesia. Signs developed between 2 and 16 months of age and tended to stabilize in adulthood. Needle electromyogram in the conscious state showed continuous motor unit activity in resting epaxial and proximal limb muscles. This activity was abolished by general anesthesia. Muscle and nerve histopathology was normal. In 2 dogs necropsied, astrocytosis was evident throughout the spinal cord gray matter, reticular formation and caudate nuclei. Decreased neuronal counts were selectively found in the spinal cord Rexed's lamina VII, but not in VIII and IX. Pedigree analysis showed that the affected dogs were from 5 related litters. Conclusions and Clinical Importance: This new hypertonicity syndrome in Labrador Retrievers is unique because of the selective distribution of the histological lesions, the lack of progression in adulthood, and its exclusive occurrence in male dogs. Pedigree analysis suggests an X‐linked hereditary disease, although other modes of inheritance cannot be ruled out with certainty. We hypothesize that altered output from basal nuclei and reticular formation together with motor neuron disinhibition caused by a decreased number of spinal cord interneurons leads to the muscular stiffness.     

Association between radiographic assessment of hip status and subsequent incidence of veterinary care and mortality related to hip dysplasia in insured Swedish dogs

Our objective was to evaluate the association between grading of hip status as assessed by radiographic examination (hip screening) and subsequent incidence of veterinary care and mortality related to hip dysplasia (HD) in five breeds of insured dogs in Sweden. Screening results for hip status from the Swedish Kennel Club and data on veterinary care and mortality from the insurance company Agria were merged based on the registration number of the dog. Dogs of five breeds (Bernese Mountain Dogs, German Shepherds, Golden Retrievers, Labrador Retrievers, and Rottweilers) screened during 1995–2004 and covered by an insurance plan for veterinary care or life at the time of screening were included. The study populations included between 1667 and 10,663 dogs per breed. Breed-specific multivariable Cox proportional-hazards analyses were performed to evaluate the impact of radiographic hip status on time from hip screening to first HD-related veterinary and life claim, respectively. The effects of gender, birth season, and a time-varying covariate of year were also studied. Additional analyses, on the five breeds combined, were performed to investigate the effects of hip status, breed, and the interaction between hip status and breed. The effect of hip status was highly significant (P < 0.001) for both life and veterinary claims related to HD in all five breeds with increased hazard ratio (HR) for deteriorating hip status. Dogs with moderate or severe hip status at screening had a markedly increased hazard of HD-related veterinary care and mortality compared with dogs assessed as free or mild. The time-varying covariate of year showed a significantly higher HR in the last time period for German Shepherds and Labrador Retrievers in the analyses of veterinary claims. In the analyses on all five breeds, German Shepherds had the highest HR for both veterinary care and mortality related to HD, followed by Bernese Mountain Dogs. Golden and Labrador Retrievers had the lowest HR. The effect of hip status on the hazard was the same irrespective of breed. However, as a consequence of differences between breeds in overall risk, the predictive ability of screening results for subsequent incidence of HD-related problems for individual dogs was breed-dependent. Based on the strong association between radiographic hip status and incidence of HD-related veterinary care and mortality, and the previously reported moderate heritability of hip status, we conclude that selection based on screening results for hip status can be expected to reduce the risk of HD-related clinical problems.     

Comparison of tibial plateau angle between clinically normal Greyhounds and Labrador Retrievers with and without rupture of the cranial cruciate ligament

OBJECTIVE: To compare tibial plateau angle (TPA) between Greyhounds without damage to the cranial cruciate ligaments and Labrador Retrievers with and without damage to the cranial cruciate ligaments. DESIGN: Clinical study. ANIMALS: 87 client-owned dogs and 15 research colony Greyhounds. PROCEDURE: Standing position, horizontal-beam radiography was performed on Greyhounds and unaffected Labrador Retrievers to determine standing TPA. Lateral radiography of the stifle joint was performed on all dogs to determine traditional TPA. Age and body weight were recorded for unaffected and affected Labrador Retrievers. RESULTS: Greyhounds had mean standing TPA of 1.56 degrees and mean traditional TPA of 22.50 degrees. Unaffected Labrador Retrievers had mean standing TPA of 3.52 degrees and traditional TPA of 27.97 degrees. Affected Labrador Retrievers had mean traditional TPA of 25.55 degrees. No significant difference was found in mean standing TPA between Greyhounds and unaffected Labrador Retrievers. Standing TPAs in Greyhounds and unaffected Labrador Retrievers were not significantly different from a plane drawn parallel to the ground. Significant differences in traditional TPAs were detected among all 3 groups. CONCLUSIONS AND CLINICAL RELEVANCE: Greyhounds had mean traditional TPA of 22.50 degrees; similar angles should be considered normal for dogs. Although affected Labrador Retrievers had mean traditional TPA that was significantly greater than that of Greyhounds, the steepest TPA was found in unaffected Labrador Retrievers. Because Greyhounds and unaffected Labrador Retrievers had similar standing TPAs, we conclude that although TPA may be associated with damage to the cruciate ligaments, many dogs with a steep TPA do not develop cruciate ligament disease.     

Measurement of femoral angles in four dog breeds

Objective— To develop a standard method of measurement for femoral angles and report values for normal Labrador Retrievers, Golden Retrievers, German Shepherds, and Rottweilers.
Study Design— Retrospective evaluation of canine pelvis and femoral radiographs.
Sample Population— Radiographs of Labrador Retrievers, Golden Retrievers, German Shepherds, and Rottweilers (n=100 for each breed).
Methods— Anatomic lateral distal and proximal femoral angle, mechanical lateral distal and proximal femoral angle, and femoral angle of inclination were measured from radiographs.
Results— For the 4 breeds (Labrador Retrievers, Golden Retrievers, German Shepherds, and Rottweilers, respectively) anatomic lateral distal femoral angles were 97°, 97°, 94°, and 98°; mechanical lateral distal femoral angles were 100°, 100°, 97°, and 100°; anatomic lateral proximal femoral angles were 103°, 98°, 101°, and 96°; mechanical lateral proximal femoral angles were 100°, 95°, 97°, and 93°; and inclination angles were 134°, 134°, 132°, and 137°. Labrador Retrievers, Golden Retrievers, and Rottweilers had significantly higher values for both anatomic and mechanical lateral distal femoral angle than German Shepherds. Anatomic and mechanical lateral proximal angles were greatest for Labrador Retrievers and lowest for Rottweilers.
Conclusion— Anatomic and mechanical femoral joint angles vary between breeds of dogs.
Clinical Relevance— Values for femoral joint angles may be clinically useful for angular limb deformity diagnosis, treatment, and assessment.     

Estimates of prevalence of hip dysplasia in Golden Retrievers and Rottweilers and the influence of bias on published prevalence figures

OBJECTIVE: To estimate prevalence of canine hip dysplasia (CHD) in Golden Retrievers and Rottweilers and identify sources of bias in published reports. DESIGN: Prospective study. ANIMALS: 200 clinically normal Golden Retrievers and 140 clinically normal Rottweilers between 24 and 60 months of age referred for hip evaluation (group 1) and 93 clinically normal dogs evaluated for Orthopedic Foundation for Animals (OFA) hip certification (group 2). PROCEDURE: Hip-extended pelvic radiographs from group 1 dogs were screened for CHD. Radiographs were evaluated twice; the first interpretation used an OFA-type subjective 7-point scoring system, and the second included the caudolateral curvilinear osteophyte as an additional sign of degenerative joint disease. The OFA submission rate of group 2 dogs was determined from the number of official reports returned from the OFA. RESULTS: Prevalence of CHD in Golden Retrievers ranged from 53% to 73% and in Rottweilers ranged from 41% to 69%. Among dogs referred for OFA evaluation, radiographs from 49 (53%) were submitted to OFA. Of submitted radiographs, 45 (92%) were normal; of radiographs not submitted, 22 (50%) were normal. Radiographs with normal-appearing hips were 8.2 times as likely to be submitted to the OFA. Compared with Golden Retrievers, Rottweiler radiographs were significantly more likely to be submitted for OFA certification. CONCLUSIONS AND CLINICAL RELEVANCE: Prevalence of CHD in these 2 breeds may be much higher than previously reported in the United States. Results suggest substantial bias in the OFA database, which causes lower estimates of prevalence of CHD.     

The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever

A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect.     

Estimation of heritability of atopic dermatitis in Labrador and Golden Retrievers

OBJECTIVE: To estimate the heritability of atopic dermatitis in Golden and Labrador Retrievers. ANIMALS: 429 dogs related to 13 dogs with atopic dermatitis. PROCEDURE: Atopic dermatitis was defined on the basis of the type and frequency of clinical signs recorded in the clinical records, and each dog was classified with atopic dermatitis or probable atopic dermatitis or as nonatopic. By use of data from atopic and nonatopic dogs, regression analyses of parental status on offspring status were performed to estimate heritability. RESULTS: There was no difference in the frequency of atopic dermatitis between sexes or between breeds. There was a marked association between the atopic status of the parent and that of the offspring, particularly for sires. By use of data from 32 litters in which the status of both parents was known and considering only those dogs classified with atopic dermatitis or as nonatopic, the heritability (+/- SE) of atopic dermatitis was estimated to be 0.47 (+/- 0.17). CONCLUSIONS AND CLINICAL RELEVANCE: Atopic dermatitis has a strong genetic component, and breeding of dogs with clinical signs of atopic dermatitis should be discouraged.     

The geographic form of retinal dysplasia in dogs is not always a congenital abnormality

To examine the congenital nature of the geographic form of focal/multifocal retinal dysplasia, we carried out a retrospective analysis of the medical records of dogs produced in a closed colony of service dogs who receive very thorough ophthalmologic examinations early in their life, and later, when they return for training. Medical records were reviewed from all dogs produced by The Seeing Eye, Inc. between October 1991 and September 1998, and which had a diagnosis of geographic retinal dysplasia coded. We identified 23 dogs of five different breeds or interbreed crosses that comprise the breeding and production program (Golden Retrievers, German Shepherds, Labrador Retrievers, Labrador Retriever/Golden Retriever cross and German Shepherd/Labrador Retriever cross) in which the results of at least two complete ophthalmic examinations were documented, the first before 10 weeks of age, and the second when the dog was a young adult. Of the 23 dogs, only one was identified as affected with the geographic form of retinal dysplasia when examined at 5–6 weeks of age. The remaining dogs were normal. Our findings indicate that, in most cases, the geographic form of retinal dysplasia is not present in dogs prior to 10 weeks of age. These findings indicate the need to revise recommendations for early screening of dogs for retinal dysplasia.     

Signalment factors, comorbidity, and trends in behavior diagnoses in dogs: 1,644 cases (1991-2001)

OBJECTIVE: To determine trends in behavior diagnoses; assess the relationship between diagnoses and age, sex, reproductive status, and breed; and evaluate associations between diagnoses within the same dog (comorbidity). DESIGN: Retrospective case series. ANIMALS: 1,644 dogs. PROCEDURES: Medical records of dogs evaluated for behavioral problems were reviewed for breed, sex, reproductive status, consultation year, birth date, and diagnoses. RESULTS: Numbers of dogs with aggression, anxiety, and unruly behavior increased over the course of the study, as did the total number of dogs evaluated for behavioral problems. In general and for aggression, Dalmatians, English Springer Spaniels, German Shepherd Dogs, and mixed-breed dogs were evaluated more often than expected, whereas Labrador Retrievers and Golden Retrievers were evaluated less often than expected. Labrador Retrievers were also underrepresented for anxiety, whereas mixed-breed dogs were overrepresented. Males were overrepresented except for interdog aggression, anxieties, and phobias, whereas females were overrepresented for phobias. Dogs with phobias were evaluated at a median age of 6.5 years, compared with dogs with other problems (median age, 2.5 years). A mean of 1.6 diagnoses/dog was observed, with certain diagnoses clustered. CONCLUSIONS AND CLINICAL RELEVANCE: Results suggested that in dogs, behavioral problems changed over the course of the study; age, sex, and breed distributions varied among diagnoses; and certain diagnoses were likely to occur together.     

Muscular dystrophy in dogs: does the crossing of breeds influence disease phenotype?

Golden Retriever (GR) muscular dystrophy is an inherited degenerative muscle disease that provides an excellent model for Duchenne muscular dystrophy in humans. This study defined the histopathologic lesions, including the distribution of type I and II muscle fibers (FTI and FTII), in 12 dystrophic and 3 nondystrophic dogs between 7 and 15 months of age. The authors were interested in studying the influence on disease phenotype from crossing the base GR breed with Yellow Labrador Retrievers. The dystrophic dogs were divided according to breed: GRs and Golden Labrador Retrievers (GLRs). On hematoxylin and eosin staining, histopathologic lesions were more severe in GRs than GLRs. Six of eight GR muscles (75%) had a severe lesion grade (grade 3). In contrast, seven GLR muscles (87.5%) had mild lesions (grade 2), and only one had severe lesions (grade 3). Changes in fiber-type distribution were more pronounced in GRs versus GLRs. FTI:FTII ratio inversion was observed in three dystrophic GRs but only one GLR. The mean diameter of FTI and FTII was smaller in GRs and GLRs than in nondystrophic dogs (P < .01). The FTI of five GR muscles (62.5%) were larger than those of GLRs, whereas only one GLR muscle was larger (P < .05). The differential was less pronounced for FTII, with four GR muscles being larger and three GLR being larger. Observations indicate that crossing the base GR breed with Labrador Retrievers lessened the severity of the GR muscular dystrophy phenotype.     

Heritabilities and genetic trends for elbow score as recorded by the New Zealand Veterinary Association Elbow Dysplasia Scheme (1992–2013) in four breeds of dog

AIM: To estimate the heritability of the New Zealand Veterinary Association (NZVA) elbow phenotype, obtain estimated breeding values (EBV) for the worst-elbow score and estimate the genetic trends for this trait in four populous breeds of dogs, using the records from the NZVA Canine Elbow Dysplasia Scheme database (1992–2013).

METHODS: Overall, 4,070 elbow records from a pedigree of 11,311 dogs were available for animals scored between 1992 and 2013. The worst elbow score between the left and right elbows was identified for each dog and used for EBV analysis. Estimates of heritability and EBV for the elbow score of dogs from German Shepherd dog, Labrador Retriever, Golden Retriever and Rottweiler breeds were obtained using restricted maximum likelihood procedures with a within-breed linear animal model. The model included the fixed effects of sex and birth year, with age at scoring as a covariable, and the random effect of animal. Genetic trends for the worst-elbow score were calculated as the regression coefficient of the EBV, weighted by reliabilities, on year of birth.

RESULTS: The estimates of heritability for worst-elbow score were 0.25 (SE 0.06) in German Shepherd dogs, 0.46 (SE 0.06) in Labrador Retrievers, 0.18 (SE 0.07) in Golden Retrievers and 0.29 (SE 0.11) in Rottweilers. The genetic trend for German Shepherd dogs was ?0.0082 (SE 0.0015), for Labrador Retrievers was ?0.0016 (SE 0.0016), for Golden Retrievers was ?0.0033 (SE 0.0010) and for Rottweilers was ?0.0070 (SE 0.0023) units per annum, which were different from zero (p<0.01) in all breeds except Labrador Retrievers.

CONCLUSIONS AND CLINICAL RELEVANCE: A small but favourable response to selection was achieved by three of the four breeds in the study period; during which selection for elbow traits has been largely voluntary. While the magnitude of genetic change in terms of elbow units per annum may appear small, it must be remembered that elbow scoring grades only range from 0–3. Greater improvement may be possible if compulsory screening was a requirement for pedigree breeding stock, and if greater selection pressure were applied on the basis on an individual’s EBV, rather than the worst-elbow score alone. The maintenance of an open registry, with transparency of EBV information made available to all breeders, may enhance selection intensity opportunities and potentially assist with the process and progress of breeding selection.     

Evaluation of a short interspersed nucleotide element in the 3' untranslated region of the defective dystrophin gene of dogs with muscular dystrophy.

OBJECTIVES: To determine the distribution of a 231-base pair (bp) element in the dystrophin gene 3' untranslated region (UTR) in a colony of Golden Retrievers with muscular dystrophy and other unrelated dogs and to estimate the frequency of recombination for the canine dystrophin gene. ANIMALS: 77 dogs from the Golden Retriever Muscular Dystrophy (GRMD) colony at the Murdoch Veterinary School and 30 unrelated dogs from the Murdoch University Veterinary Clinic. PROCEDURE: Samples of blood or hair from dogs were used for amplification of DNA, using primers to the canine dystrophin 3' UTR. RESULTS: The DNA from affected dogs generated a larger PCR product than that obtained from clinically normal dogs. Products were cloned and sequenced, and the difference in size was found to be attributable to a 231-bp short interspersed nucleotide element (SINE). The SINE was found in all affected dogs in the colony but not in most unaffected puppies in the colony. Eighteen of 19 dogs in the colony were heterozygous for the GRMD mutation, and 7 of 30 unrelated dogs also were heterozygous for the SINE. CONCLUSION AND CLINICAL RELEVANCE: Evidence of recombination between the GRMD mutation and the SINE was observed in only 4 dogs (2 sets of littermates) in the GRMD colony. Incidence of this SINE in a few unrelated dogs suggests that this particular insertion into the dystrophin gene may have been a recent event. The SINE in the dystrophin 3' UTR did not have an apparent influence on dystrophin mRNA concentrations.     

A histopathological study of iridociliary cysts and glaucoma in Golden Retrievers

This is a retrospective histopathological study of archive slides from the Comparative Ocular Pathology Laboratory of Wisconsin from 1981 to 1997. Reports on eyes or ocular contents from 2176 dogs were reviewed. Five-hundred and thirty out of 2176 (24%) of the cases had a clinical or histologic diagnosis of glaucoma. Twenty-five out of 530 (5%) of the canine cases of glaucoma were in Golden Retrievers. Thirteen out of 25 (52%) of the Golden Retriever cases of glaucoma had iridociliary cysts. Iridociliary cysts in Golden Retrievers may lead to the development of glaucoma. Histologically all 13 of the cases of glaucoma and iridociliary cysts had large thin-walled cysts lined with attenuated cuboidal epithelium filling most of the posterior chamber. The following histologic features were also present: thick walled cysts containing hyaluronic acid (8/13; 62%), a solid cellular proliferation (2/13; 15%), a retrocorneal membrane associated with a defect in Descemet's membrane (7/13; 54%), iris bombé (5/13; 38%), a preiridal fibrovascular membrane (4/13; 31%), hemorrhage (4/13; 31%), a cellular membrane on the anterior lens surface (6/13; 46%), retinal detachment (5/13; 38%), peripheral anterior synechia (5/13; 38%), and posterior synechia (6/13; 46%). Complete follow up was obtained on 11/13 (85%) of the Golden Retrievers with glaucoma and iridociliary cysts. Two/11 (18%) of the dogs were euthanized due to intractable glaucoma. Eight/13 (62%) of the dogs had problems in the other eye. The other eye was diagnosed with uveitis 5/11 (45%), glaucoma 2/11(18%), pigment in the anterior chamber 3/11 (27%), and iridociliary cysts 4/11 (36%).     

Cosegregation of a factor VIII microsatellite marker with mild hemophilia A in Golden Retriever dogs

Mild hemophilia A (factor VIII deficiency) was diagnosed in Golden Retrievers and pedigree studies were undertaken to test the cosegregation of an intragenic factor VIII marker with the disease phenotype. The study population consisted of 30 client-owned dogs (22 males and 8 females). Hemophilic males (n = 12) typically demonstrated prolonged bleeding after trauma or surgery rather than spontaneous hemorrhagic events. The affected males had a proportionate reduction in factor VIII coagulant activity (mean FVIII:C = 4%) and factor VIII protein concentration (mean FVIII:Ag = 3%). Twenty-five dogs (10 affected males, 8 clear males, 2 obligate carrier dams, and 5 suspect carrier daughters) were genotyped for a factor VIII microsatellite marker, with allele size assigned by an automated capillary electrophoresis system. Five distinct marker alleles were present in the study pedigree and a 300-base pair allele was found to segregate with the hemophilia A phenotype. The inheritance of the hemophilia-associated allele defined carrier status for 5 suspect daughters of obligate carrier dams. The limitations inherent to linkage analyses (i.e., lack of access to key family members and homozygosity at the marker locus) did not preclude carrier detection in this pedigree. We conclude that genotype analysis for the intragenic factor VIII marker can aid in control of canine hemophilia A through enhanced carrier detection.