Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs

• DOI: 10.1111/age.13321
• Publication Date: 2023-03-27T10:19:50Z
• Authors: Therese Fitzwilliams; Julie L. Wolff‐Sn...; Merete Fredholm; Peter Karlskov‐Mo...; Bernt Guldbrandtsen; Camilla S. Bruun
• Keywords: Cystinuria

Abstract Cystinuria is a genetic disease that can lead to cystine urolith formation. The English bulldog the dog breed most frequently affected. In this breed, three missense mutations have been suggested be associated with cystinuria: c.568A>G and c.2086A>G in SLC3A1 c.649G>A SLC7A9 . study, occurrence of these Danish population bulldogs was investigated. Seventy‐one were genotyped using TaqMan assays. dogs’ owners given questionnaires concerning medical histories their dogs. Allele frequencies 0.40, 0.52 found for mutant alleles loci: c.568A>G, c.2086A>G, c.649G>A, respectively. For both , statistically significant association between cystinuria homozygosity G allele among male, bulldogs. mutation there no cystinuria. Due high frequencies, limited diversity, continued uncertainty about background cystinuria, more severe health problems selection based on testing cannot recommended However, results test may used as guide recommend prophylactic treatment.