Peer-reviewed veterinary case report
Genetic test finds kidney disease mutation in UK Persian cats
By Helps, Chris R et al.·Published in Molecular and cellular probes·2007·School of Clinical Veterinary Science, United Kingdom·View original on PubMed →
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Original publication title: Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay.
- Species:
- cat
Plain-English summary
A group of Persian cats in the UK was tested for a genetic kidney disease called autosomal-dominant polycystic kidney disease (AD-PKD), which is common in this breed. Out of 72 cats screened, 29 were diagnosed with the disease, while 41 were healthy and 2 had unclear results. Researchers developed a new blood test that can quickly and accurately identify the genetic mutation causing AD-PKD. This test matched results from traditional ultrasound screenings, confirming its effectiveness. The study found that about 27.5% of the cats tested were positive for this genetic mutation.
People also search for: Persian cat kidney disease symptoms · how to test for AD-PKD in cats · treatment for cat kidney disease
Abstract
Autosomal-dominant polycystic kidney disease (AD-PKD) is the most prevalent inherited genetic disease of cats, particularly affecting Persians. Until recently the condition has been diagnosed by renal ultrasound screening. With the identification of the genetic mutation responsible for AD-PKD it is now possible to use advanced molecular techniques to screen for the disease. We have developed a rapid, sensitive and specific real-time PCR genotyping assay that can detect the single nucleotide polymorphism responsible for AD-PKD. Of 72 UK Persian and Exotic Shorthair cats submitted for AD-PKD ultrasound screening, 29 were found to have the disease, 41 were negative and 2 were equivocal. The recently published PCR-RFLP method showed the AD-PKD mutation to be present in all 29 diseased cats and absent in the 41 negative and 2 equivocal cats. Our real-time PCR genotyping assay was in complete agreement with the PCR-RFLP results. Of 600 blood or buccal swabs analysed from April 2005 to January 2006, 165 were found to be AD-PKD positive and 435 were negative, giving a prevalence of 27.5%. All 194 cats with AD-PKD were found to be heterozygous for the mutation.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16950597/