Objectives: Autosomal dominant polycystic kidney disease (ADPKD), the most frequently diagnosed hereditary disease affecting Persian cats, is caused by a cytosine-to-adenine transversion (10063C>A) in PKD1, the gene that codes for polycystin-1. The objective of this study was to provide a preliminary estimate of the frequency of the pathogenic 10063C>A single nucleotide polymorphism (SNP) of PKD1 in Persian and Persian-related cat breeds in western Mexico.
Methods: Blood samples were collected from 104 cats (89 Persian, seven Persian crossbreed, five Siamese and three Himalayan cats). Genotyping was performed with our proposed PCR restriction fragment length polymorphism (RFLP) assay, as well as a previously established PCR-RFLP method for validation. The genotypes of control cats were corroborated by a commercial veterinary genetics laboratory.
Results: Our proposed PCR-RFLP assay and the validated PCR-RFLP methodology indicated that 24/104 (23.1%) cats in this study were heterozygous carriers of the 10063C>A SNP, including 23/89 Persian cats (25.8%) and 1/7 Persian crossbreed cats (14.3%). No Siamese or Himalayan cats were carriers. There were no discrepancies between the results obtained with our proposed assay and those obtained with the validation method or with commercial laboratory results.
Conclusions and relevance: The carrier frequency of the PKD1 10063C>A SNP in Persian and Persian-related cat breeds in western Mexico was found to be 23.1%. ADPKD frequencies among cat populations in Mexico have not been published previously. Genotyping assays can be used to facilitate the selection of breeding stocks by local breeders and veterinarians to avoid propagation of ADPKD.
Keywords: PCR-RFLP; PKD1; Persian; genotyping.