Hyperuricosuria (HUU)

Acronym: HUU
Gene: SLC2A9
Mutation: c.563G>T
Inheritance: Autosomal recessive
Sample type: CHS (Cheek Swab), WBE (Whole Blood EDTA)


Genetics and characteristics

Hyperuricosuria, the excessive excretion of uric acid in the urine, is a condition that predisposes dogs to urate urolithiasis. Dogs, like other animals, excrete waste products in their urine, only unlike other animals one of the differentiating waste products of dog metabolism is uric acid. This leads to high levels of uric acid in the urine and blood. In dogs, high uric acid levels result in urate urolithiasis and bladder stones that often have to be removed surgically. Breed-specific prevalence of urate urolithiasis, when caused by the hyperuricosuria mutation, can be lowered over time by decreasing the frequency of the mutant allele in the breeding populations. A DNA-based test for hyperuricosuria is available to assist veterinarians in the diagnosis of the underlying cause of urate urolithiasis. This DNA test may also be used to genotype breeding dogs and aid breeders in reducing the incidence of hyperuricosuria and urate urolithiasis in susceptible breeds.

 


Results Reported As

 
Test Result
Interpretation of test result
CLEAR
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring.
CARRIER
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring.
AFFECTED
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring.

 

 

 

 

 

 

 

 

 

 

*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.

** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.

 


References:

Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, R.S., and Ling, G.V. (2008). Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genetics 4.

Karmi, N., Safra, N., Young, A., and Bannasch, D.L. (2010). Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. American Journal of Veterinary Research 71, 909–914.

 


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Suitable for breeds

AFFENPINSCHER AFGHAN HOUND AIREDALE TERRIER AKITA ALANO ESPAÑOL (SPANISH BULLDOG) ALASKAN HUSKY ALASKAN KLEE KAI ALASKAN MALAMUTE ALASKAN SLED DOG ALPINE DACHSBRACKE AMERICAN AKITA AMERICAN BULLDOG AMERICAN BULLY AMERICAN COCKER SPANIEL AMERICAN ENGLISH COONHOUND AMERICAN ESKIMO DOG AMERICAN FOXHOUND AMERICAN HAIRLESS TERRIER AMERICAN LEOPARD HOUND AMERICAN MINI-PEI AMERICAN PITBULL TERRIER AMERICAN STAFFORDSHIRE TERRIER AMERICAN TOY FOX TERRIER AMERICAN WATER SPANIEL ANATOLIAN SHEPHERD DOG ANGLO-FRANÇAIS DE PETITE VÈNERIE APPENZELL CATTLE DOG ARIEGE POINTING DOG ARIEGEOIS ARTOIS HOUND
And for more 409 breeds