Myophosphorylase deficiency (glycogen storage disease Type V) in Charolais cattle     

RD Jolly  KD McSporran  AC Johnstone 《New Zealand veterinary journal》2013,61(1)

Extract

Myophosphorylase deficiency (glycogen storage disease Type V) has been diagnosed in Charolais calves in New Zealand. It is manifested as exercise intolerance and recumbency, usually at several weeks of age, due to an inability to mobilise glucose, as glucose phosphate, from glycogen. Affected calves may rise and walk after a rest to again become affected on further exercise. There is rhabdomyolysis and after repeated or severe attacks the calf may remain recumbent and need to be euthanised. The mutant phosphorylase gene has been described. We have established a PCR-RFLP test based on a published method, and have confirmed the diagnosis in affected calves and heterozygous status of sires, dams and other related individuals belonging to an extended family. In addition, several other non-related heterozygotes have been identified in that and another herd. There appears to have been importations of the gene from both England and America.  相似文献   

Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: Confirmation by PCR-RFLP testing     

AC Johnstone  KD McSporran  JE Kenny  IL Anderson  GR MacPherson  RD Jolly 《New Zealand veterinary journal》2013,61(6):404-408

AIM: To describe a disease of muscle in Charolais calves and confirm the putative diagnosis of inherited myophosphorylase deficiency.

METHODS: Variously stained paraffin sections of muscle prepared from affected calves were used to describe the lesions. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test was developed and applied to affected calves, their sires, dams and other individuals.

RESULTS: The lesions were those of rhabdomyolysis of skeletal muscles and sub-sarcolemmal spaces in normal fibres. The PCR-RFLP test confirmed the expected mutation for phosphorylase deficiency of Charolais cattle in two affected calves. In addition, sires, dams and other closely-related individuals of four affected calves tested as heterozygous for the mutation. Other apparently unrelated animals also tested as heterozygous.

CONCLUSIONS: The diagnosis of myophosphorylase deficiency was confirmed. The PCR-RFLP test is suitable for use in controlling this recessively-inherited disorder as it can diagnose heterozygous individuals that are otherwise clinically normal.  相似文献   

Segmental axonopathy of Merino sheep in New Zealand     

RD Jolly  AC Johnstone  SD Williams  K Zhang  TW Jordan 《New Zealand veterinary journal》2013,61(5):210-217

AIM: To investigate an axonopathy of Merino sheep that caused progressive hindlimb ataxia and slight to moderate paresis, with the purpose of understanding its pathogenesis.

METHODS: Tissues were fixed in buffered paraformaldehyde or paraformaldehyde and glutaraldehyde, processed into wax and epoxy resin, respectively, and examined by light and electron microscopy. Fresh frozen spinal cord and trigeminal nerve roots were subjected to homogenisation, centrifugation and two-dimensional electrophoresis. Selected protein spots were identified using matrix-assisted laser desorption ionisation (MALDI) mass spectrometry.

RESULTS. By light microscopy, there were large pale foamy spheroidal axonal swellings affecting peripheral as well as central axons. By electron microscopy, these were shown to contain many membrane-bound vesicles. The main abnormalities in expressed proteins involved cytoskeletal elements and myosin heavy chain, the latter interpreted as associated with the molecular motor myosin Va.

CONCLUSIONS: The disorder is the same as that described in Merinos in Australia as segmental axonopathy, and believed to have an inherited aetiology. The lesions and protein changes indicate abnormalities of the cytoskeleton, its relationship with the myelin sheath, and myosin Va molecular motor. The consequence appears to be abnormal axonal transport and inability to maintain the integrity of axons and their myelin sheaths.  相似文献   

Improvement of Fertility in Artificially Inseminated Ewes Following Vaginal Treatment with Misoprostol Plus Terbutaline Sulphate     

AEM Horta  JP Barbas  CC Marques  MC Baptista  MI Vasques  RM Pereira  RD Mascarenhas  S Cavaco‐Gonçalves 《Reproduction in domestic animals》2010,45(6):e412-e416

The effect of vaginal administration of misoprostol plus terbutaline sulphate 6 h prior to artificial insemination (AI) upon the site of AI (vaginal or cervical) and fertility was studied using a total of 87 estrous synchronized Serra da Estrela ewes (control n = 42 and treated n = 45). Artificial insemination was performed using refrigerated semen at 54–55 h after sponge removal. Lambing rate (fertility) and prolificacy were compared between control and treated ewes. The effect of the site of semen deposition on fertility was also evaluated. Prolificacy rate was not different between control (1.5) and treated (1.59) ewes. The proportion of cervical AI achieved in control (45.2%) and treated (37.8%) ewes was not significantly different. Overall, fertility was significantly lower in control than in treated ewes (42.9% vs 64.4%; p < 0.04). Fertility following vaginal AI was significantly lower for control for than treated ewes (30.4% vs 60.7%; p < 0.03) but the difference was smaller and not significant for cervical AI (control 57.9% vs 70.6%). It was concluded that vaginal administration of misoprostol plus terbutaline sulphate 6 h prior to artificial insemination did not affect the proportion of cervical inseminations but significantly improved the fertility of treated ewes. Although needing confirmation, it was hypothesized that drugs might have induced local secretory modifications leading to an increase of cervical ability to retain more viable spermatozoa for fertilization.  相似文献   

Gametic disequilibria between virulence genes in barley powdery mildew populations in relation to selection and recombination. I. Models     

HANNE øSTERGÅRD  MOGENS S. HOVMøLLER 《Plant pathology》1991,40(2):166-177

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Animal medical genetics: a perspective on the epidemiology and control of inherited disorders     

RD Jolly  HT Blair 《New Zealand veterinary journal》2016,64(3):135-144

This perspective considers genetic disorders of domestic animal populations, in particular their epidemiology and control. Inherited disorders of animals share the same basic molecular biology as those of human beings, but they differ in their epidemiology due largely to the breed structure of the various species, human control of breeding and a greater influence of the founder effect, particularly due to extensive use of a limited number of sires, and inbreeding. Control of genetic disorders in animals is also more practical through extensive screening for disease, or heterozygous animals within defined breed populations, followed by exclusion of affected or carrier animals from breeding. This is assisted by the fact that, within a breed, many inherited monogenic disorders are associated with a single mutation. However some of the more important disorders may be inherited in a non-Mendelian manner, being influenced by multiple genes as well as environmental factors. These aspects are discussed and contrasted with similar aspects in human medical genetics.  相似文献   

Rundschau     

RD i. R. Dr. Edmund Leib 《Journal of pest science》1984,57(5):98-102

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Rundschau     

RD i. R. Dr. Edmund Leib 《Journal of pest science》1988,61(6):118-120

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Rundschau     

RD i. R. Dr. Edmund Leib 《Journal of pest science》1986,59(7):137-139

Ohne ZusammenfassungPflanzenschutzorganisation für Europa und die Mittelmeerländer  相似文献   

Rundschau     

RD i. R. Dr. Edmund Leib 《Journal of pest science》1983,56(7):140-143

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