ADAMTS17 mutation associated with primary lens luxation is widespread among breeds

Primary lens luxation (PLL) is a well-recognized, painful and potentially blinding inherited ocular condition in dogs. We screened PLL-affected dogs of 30 different breeds, to identify those which carried a previously described c.1473+1 G>A mutation in ADAMTS17 that is associated with PLL in Miniature Bull terriers, Lancashire Heelers, and Jack Russell terriers. This ADAMTS17 mutation was identified in PLL-affected dogs from 14 additional breeds. PLL-affected dogs from some breeds (most notably the Shar pei and the Brittany spaniel) did not carry the G1473+1A ADAMTS17 mutation, indicating they must suffer from a genetically distinct form of the condition. We also estimated the frequency of this ADAMTS17 mutation in some of the breeds. Our findings indicate the mutation segregates in a large number of different breeds of dog, many of which are terriers or breeds with terrier co-ancestry, but some of which have more diverse origins. Our results also indicate that the mutation is present at high frequency within most of the breeds in which it segregates. In the miniature bull terrier breed estimates of mutation frequency ranged from 0.27 to 0.39, corresponding to 7.3-15.2% PLL-affected dogs in this breed. We also identified an increased risk of PLL associated with heterozygosity at ADAMTS17, suggesting that carriers carry a low risk of developing PLL.     

Results of ophthalmologic screening examinations of German Pinschers in Finland – a retrospective study

Objective To retrospectively review ophthalmologic findings in German Pinschers in Finland. Animals studied One hundred and twenty‐two German Pinschers that had ophthalmologic examination performed according to the Finnish Kennel Club’s Eye Scheme before June 15, 1999. Procedures A total of 154 eye examination reports of 122 dogs were analysed and all described findings were reported. Results Persistent hyperplastic tunica vasculosa lentis (PHTVL) was diagnosed in 8.4% of all cases, and hereditary cataract (HC) in 6.5%. Even higher numbers of similar changes were reported by ophthalmologists; some of the dogs, however, were officially diagnosed as ‘free of symptoms’ of inherited ocular diseases. A relatively high number (4.5%) of dogs had reported changes in Y sutures. A pedigree analysis suggests recessive inheritance for both diseases. Because of missing information about many dogs in the pedigree, an autosomal incomplete inheritance pattern cannot be ruled out in either case. Conclusions Both HC and PHTVL are inherited diseases in German Pinschers. Further studies are needed to determine the importance of the changes found in Y sutures. Discrepancies between the official diagnosis and described changes are probably partially due to the lack of familiarity with the published literature concerning this breed. Further studies are needed to ascertain the inheritance pattern for both diseases. So far breeding with affected animals should be avoided.     

Cataract in the UK Leonberger population

OBJECTIVE: To survey the Leonberger, a numerically small breed in the UK, for the presence of cataract and find statistical support for the possible presence of inherited forms of cataract. METHODS: Ocular examinations were carried out by the first author between September 1996 and September 1998 on 211 Leonbergers; results of the ocular examination of further 228 Leonbergers examined between January 1990 and September 1998 by members of the British Veterinary Association/KC/ISDS eye scheme (BVA/KC/ISDS eye scheme) panel were analyzed. Data from all dogs examined were pooled in a composite database of 365 Leonbergers and the relationships between offspring and parents for the identified forms of cataract were examined with appropriate statistical methods. RESULTS: Cataracts were diagnosed in 90 Leonbergers, the majority being nuclear (40) or posterior polar subcapsular (31). A subgroup of nuclear cataracts, diagnosed in 11 dogs, is described and named as 'posterior nuclear cataract.' For posterior polar cataract, a positive association between offspring and parents was made in the logistic regression model, supporting the suggestion of inheritance. CONCLUSIONS: The presence of several types of cataract in the UK Leonberger population is described. Statistical support for the inheritance of posterior polar subcapsular cataract is given.     

The detection of Mycobacterium paratuberculosis in bovine faeces by isolation and the comparison of isolation with the examination of stained smears by light microscopy

The detection of Mycobacterium paratuberculosis organisms in bovine faeces by isolation was compared with that by the microscopical examination of Ziehl-Neelsen stained faecal smears for the presence of clumps of acid-fast M. paratuberculosis organisms. Faeces were obtained from cattle naturally or experimentally infected with M. paratuberculosis as well as from uninfected cattle. Microscopical examination was an unreliable method for the detection of M. paratuberculosis organisms since the organisms were only detected in 99 (=55.9%) of 177 culturally positive faecal samples. In addition, clumps of acid-fast organisms indistinguishable from M. paratuberculosis were also observed in three of 18 samples from cattle free from Johne's disease and in 18 of 37 culturally negative samples from paratuberculous cattle. When M. paratuberculosis organisms were added to faeces from an uninfected cow, results showed that isolation attempts should be positive when 15 or more M. paratuberculosis organisms per gram of faeces are present.     

Equine clinical genomics: A clinician's primer

The objective of this review is to introduce equine clinicians to the rapidly evolving field of clinical genomics with a vision of improving the health and welfare of the domestic horse. For 15 years a consortium of veterinary geneticists and clinicians has worked together under the umbrella of The Horse Genome Project. This group, encompassing 22 laboratories in 12 countries, has made rapid progress, developing several iterations of linkage, physical and comparative gene maps of the horse with increasing levels of detail. In early 2006, the research was greatly facilitated when the US National Human Genome Research Institute of the National Institutes of Health added the horse to the list of mammalian species scheduled for whole genome sequencing. The genome of the domestic horse has now been sequenced and is available to researchers worldwide in publicly accessible databases. This achievement creates the potential for transformative change within the horse industry, particularly in the fields of internal medicine, sports medicine and reproduction. The genome sequence has enabled the development of new genome‐wide tools and resources for studying inherited diseases of the horse. To date, researchers have identified 11 mutations causing 10 clinical syndromes in the horse. Testing is commercially available for all but one of these diseases. Future research will probably identify the genetic bases for other equine diseases, produce new diagnostic tests and generate novel therapeutics for some of these conditions. This will enable equine clinicians to play a critical role in ensuring the thoughtful and appropriate application of this knowledge as they assist clients with breeding and clinical decision‐making.     

‘Sara Gold’杂交及其后代的遗传表现

以蝴蝶兰Phalaenopsis黄花系品种P. ‘Taipei Gold’（2n ＝ 3x ＝ 57）作母本进行杂交育种有一个突出的问题是不育性障碍,为了克服这种障碍,多年来选择不同的父本进行杂交,终于发现采用 P. ‘Sara Gold’作父本进行杂交,收到蒴果1个,培育出杂交后代群体180株,其中有开花株99株。对杂交后代株高、冠幅、着花量、花径、花箭数、侧枝数及花色、唇瓣颜色和花瓣上的斑点进行观测记载。结果表明：杂交后代生长发育指标优于双亲的株数百分比：株高、冠幅、着花量、花径、侧枝数和花箭数分别占67.68%,86.87%,61.62%,24.24%,21.21%和26.26%;花瓣和唇瓣的颜色,基本遗传了双亲的特点,91%的后代花瓣颜色与双亲相似,74%的后代唇瓣颜色与双亲相似,90%的后代花瓣上出现了斑点。以P. ‘Taipei Gold’作为母本成功杂交在国内首次报道,为蝴蝶兰黄花系杂交育种提供了实践依据。图1表1参6     

Suspected congenital hyperinsulinism in a Shiba Inu dog

A 3-month-old male intact Shiba Inu dog was evaluated for a seizure disorder initially deemed idiopathic in origin. Seizure frequency remained unchanged despite therapeutic serum phenobarbital concentration and use of levetiracetam. The dog was documented to be markedly hypoglycemic during a seizure episode on reevaluation at 6 months of age. Serum insulin concentrations during hypoglycemia were 41 U/μL (reference range, 10-29 U/μL). The dog was transitioned to 4 times per day feeding, diazoxide was started at 3.5 mg/kg PO q8h, and antiepileptic drugs were discontinued. No clinically relevant abnormalities were identified on bicavitary arterial and venous phase contrast computed tomographic imaging. The dog remained seizure-free and clinically normal at 3 years of age while receiving 5.5 mg/kg diazoxide PO q12h and twice daily feeding. Seizures later occurred approximately twice per year and after exertion, with or without vomiting of a diazoxide dose. Blood glucose curves and interstitial glucose monitoring were used to titrate diazoxide dose and dosing interval. Congenital hyperinsulinism is well recognized in people but has not been reported in veterinary medicine.     

Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation)

Collie eye anomaly (CEA) encompasses a spectrum of different ophthalmic phenotypes from clinically inconsequential choroidal hypoplasia to blindness from coloboma of the optic nerve head (ONH). A previous study found a 7.8‐kb deletion in intron 4 of the NHEJ1 gene to be associated with CEA. A genetic test based on this association is recommended for many breeds, including the Nova Scotia Duck Tolling Retriever (NSDTR). Collection of ONH coloboma‐affected NSDTR showed lack of concordance of the NHEJ1 intronic deletion with ONH coloboma. Using genomewide single nucleotide polymorphism (SNP) genotyping in 7 ONH coloboma‐affected NSDTR cases and 47 unaffected NSDTR controls with no ophthalmic signs, one SNP, located on chromosome 7, demonstrated genomewide significance. However, high genomic inflation may have confounded the results. Therefore, the genomewide association study was repeated using EMMAX to control for population structure in the cohort of 7 cases and 47 controls. However, no regions of the genome were significantly associated with ONH coloboma. These results failed to document significant association with the CEA locus. Due to the complex genetic etiology of ONH coloboma, the NHEJ1 intronic deletion test results should be carefully considered when making breeding decisions. If the goal is to select for visually competent dogs, our data suggest that eye examinations of puppies would be more effective as a guide in selection of breeding pairs than relying solely on currently available genetic tests.