Estimated frequency of the canine hyperuricosuria mutation in different dog breeds

Abstract

Background: Hyperuricosuria is a condition that predisposes dogs to urate urolithiasis. A mutation that causes canine hyperuricosuria was previously identified in 3 unrelated dog breeds. The occurrence of the mutation in additional breeds was not determined.

Hypothesis/objectives: Identify additional breeds that have the hyperuricosuria mutation and estimate the mutant allele frequency in those breeds.

Animals: Three thousand five hundred and thirty dogs from 127 different breeds were screened for the hyperuricosuria mutation.

Methods: DNA samples were genotyped by pyrosequencing and allele-specific polymerase chain reaction methods.

Results: Mutant allele frequencies that range from 0.001 to 0.15 were identified in the American Staffordshire Terrier, Australian Shepherd, German Shepherd Dog, Giant Schnauzer, Parson (Jack) Russell Terrier, Labrador Retriever, Large Munsterlander, Pomeranian, South African Boerboel, and Weimaraner breeds.

Conclusions and clinical importance: The hyperuricosuria mutation has been identified in several unrelated dog breeds. The mutant allele frequencies vary among breeds and can be used to determine an appropriate breeding plan for each breed. A DNA test is available and may be used by breeders to decrease the mutant allele frequency in breeds that carry the mutation. In addition, veterinarians may use the test as a diagnostic tool to identify the cause of urate urolithiasis.

Fig 1

Mutant allele frequency within breeds. Error bars indicate the 95% confidence intervals. The number of animals tested to determine the mutant allele frequency is noted in parenthesis next to the breed name.