Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations
| Autor: | Thamiris Figueiredo da Silva, Maíra Gonçalves da Mota Lima, Larissa C. Aquino, Marcela C. Scalon, Filipe Tavares Carneiro, Giane Regina Paludo, Marcelle Santos Lemos |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Touchdown polymerase chain reaction Hyperglobulinemia Biology Cat Diseases Polymerase Chain Reaction law.invention law Prevalence Polycystic kidney disease medicine Animals Point Mutation Polymerase chain reaction Genetics CATS General Veterinary PKD1 Point mutation Polycystic Kidney Autosomal Dominant medicine.disease Virology Mutation (genetic algorithm) Cats Female Brazil |
| Zdroj: | Journal of Veterinary Diagnostic Investigation. 26:542-546 |
| ISSN: | 1943-4936 1040-6387 |
| DOI: | 10.1177/1040638714536561 |
| Popis: | Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited genetic disease of cats, predominantly affecting Persian and Persian-related cats. A point mutation (C→A transversion) in exon 29 of the PKD1 gene causes ADPKD, and is the specific molecular target for genetic diagnosis in cats. The current study describes a newly developed touchdown polymerase chain reaction (PCR) to detect this single point mutation, using 2 primers specific for the mutant allele, adapted from an existing multiplex amplification refractory mutation system (ARMS PCR). Furthermore, correlations between the clinical outcomes of tested animals and the results of the genetic test were investigated. A total of 334 cats were tested, 188 from the Veterinary Hospital of Small Animals at the University of Brasilia, and 146 from an anti-rabies vaccine campaign of the Federal District. A total prevalence of 9% was evident among the samples, with 33% of the Persian cats testing positive, and 7% of the Brazilian long- and shorthaired cats testing positive. Prevalence was not correlated with gender or hemogram. Positive animals exhibited hyperglobulinemia ( P = 0.02). This research demonstrated that the mutation does not only occur in Persian and Persian-related cats, and that a touchdown PCR can be used to diagnose ADPKD. |
| Databáze: | OpenAIRE |
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