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EVG, molekularna diagnostika
Taborska ulica 8
SI-2000 Maribor  
Slovenia



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Description

Hyperuricosurie is a disease characterised by excessive excretion of uric acid into the urine, leading to formation of uric acid stones. The disease is caused by mutation G563T in SLC2A9 gene that codes for uric acid transport protein expressed in kidneys. The mutation was first discoverd in Dalmatian dogs. However in wider population screen it was also found frequently in Bulldog, Black Russian Terrier, American Staffordshire Terrier as well as retrievers. Below is a list of breeds where the mutation was found however it is not excluded that the mutation is present in other breeds.

 

Inheritance: Autosomal recessive. read more

Mutation: SLC2A9 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Bulldog, Black Russian Terrier, American Staffordshire Terrier, Labrador Retriever, Parson Russell Terrier, South African Boerboel, Waimaraner, Big Munsterland Pointer, German Shepherd, Australian Shepherd, Giant Schnauzer, Pomeranian, Dalmatian 

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

 

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