Breeds Affected: Bull Terrier
Samples Accepted: Blood, Buccal Swabs
Disease Information: Polycystic Kidney Disease (PKD) is characterized by the development of cysts in the kidney, eventually leading to chronic renal failure in middle-age to old animals.
Inheritance Information: PKD is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.
The possible genotypes are:
n/n The dog is normal, and cannot produce affected offspring.
n/PKD The dog is affected, and 50% of the offspring will be affected.
PKD/PKD The dog is affected, and 100% of the offspring will also be affected.
– Affected animals (n/PKD, PKD/PKD) should not be used for breeding.
Test Information: This mutation test identifies a single base pair change in exon 29 of the PKD1 gene.
Gharahkhani, P., O’Leary, C.A., Kyaw-Tanner, M., Sturm, R.A., Duffy, D.L.: A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers PLoS ONE 6:e22455, 2011. DOI: 10.1371/journal.pone.0022455
Further information is available at the Online Mendelian Inheritance in Animals website.