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Home » Archive » 2011

TDK conference 2011

An investigation into the genetic background of Beagle Pain Syndrome
Girling Hannah - year 5
Szent István University Faculty of Veterinary Science Department of Animal Breeding and Genetics
Supervisor: Dr. Ákos Maróti-Agóts

Abstract:

The Beagle Pain Syndrome (BPS) is one of the most known Steroid Responsive Meningitis-Arteritis diseases of dogs. BPS is a systemic immune disorder characterised by inflammatory lesions of the leptomeninges and the associated arteries.

The Beagle Pain Syndrome was described at first as the most important animal model for human Kawasaki disease. It is showing the characteristics of familiar inherited diseases, which is emphasizing the importance of the investigation into its genetic background.

The genome wild linkage disequilibrium mapping research identified the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene as the most plausible candidate gene of the human Kawasaki disease. The ITPKC gene on human chromosome 19q13.2 is significantly associated with Kawasaki disease susceptibility through the T-cell immune hyper-reactivity, which is also an important biochemical sign of BPS. The hypothesis for the research was that the human Kawasaki disease is also useful in this case as a human model of the Beagle Pain, and that the ITKPC gene can be also a candidate gene in dogs.

First necessary in this study was the finding and testing of a flanking polymorphic STR pair near the canine ITPKC gene for the possible indirect diagnosis. With the indirect diagnosis it is possible to recognise the potential different, maybe breed-specific defective alleles of ITPKC.

In this study, based on the published data of the dog genome project, we tested, and described a possible useful marker pair for the prospective indirect diagnosis of defective alleles of the ITKPC gene in dogs.

As a trial we have tested the bioinformatically-designed STR in Beagle, Boxer, Bernese Mountain Dog and German Shorthaired Pointer as affected breeds for polymorphism.

Results of this study can be a useful tool for testing for the immune-mediated BPS with possible indirect markers.



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