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.
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.
authors.affiliation: Division of Veterinary Pathology, Infection and Immunity, School of Clinical Veterinary Science, University of Bristol, Langford House, Langford, Bristol, BS40 5DU, UK. c.r.helps@bristol.ac.uk
authors.forename: Chris R
authors.initials: CR
authors.lastname: Helps
authors.forename: Séverine
authors.initials: S
authors.lastname: Tasker
authors.forename: Frances J
authors.initials: FJ
authors.lastname: Barr
authors.forename: Sheila J
authors.initials: SJ
authors.lastname: Wills
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Gruffydd-Jones
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D005838:Genotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000662:veterinary*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012680:Sensitivity and Specificity; D014463:Ultrasonography; D006113:United Kingdom