Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations

Silva, Thamiris F. da; Aquino, Larissa Campos; Carneiro, Filipe T.; Lima, Maíra Gonçalves da Mota; Lemos, Marcelle dos Santos; Paludo, Giane Regina

doi:10.1177/1040638714536561

Cited by 6 publications

(17 citation statements)

References 14 publications

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“…These animals, however, were exclusively analyzed by ultrasonography, and when only Persian cats were considered, the prevalence reached 31.6%. More recently, Scalon et al (2014) showed a total ADPKD prevalence of 9% in 334 cats from the Federal District of Brazil. In addition, this percentage varied greatly according to the origin of the sample.…”

Section: Discussionmentioning

confidence: 99%

“…Based exclusively on ultrasonography analysis, these studies have estimated that ADPKD affects 16% to 44.6% of the referred animal population (Alves et al, 2006;Teixeira, 2007;Ondani et al, 2009). More recently, a study revealed a total prevalence of 9% in 334 tested cats, with positivity of 33% in Persian cats and 7% in Brazilian long-and shorthaired cats (Scalon et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Guerra

Cardoso

Daniel³

et al. 2021

Braz. J. Biol.

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Guerra

Cardoso

Daniel³

et al. 2021

Braz. J. Biol.

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“…Segundo Ware (2007) MEURS et al, 2009;KITTLESON, 2009a;LONGERI et al, 2013;BORGEAT et al, 2014 LONGERI et al, 2013 BILLER et al, 1996;EATON et al, 1997;PEDERSEN et al, 2003). É a doença genética mais prevalente em gatos, acometendo principalmente animais da raça Persa ou correlacionados CHEW;DIBARTOLA, 1990;BILLER et al, 1996;BONAZZI et al, 2009;LEE et al, 2010b;SCALOL et al, 2014). Da mesma forma, em humanos, constitui-se na doença renal monogênica mais comum, acometendo um em cada 400-1000 indivíduos, com curso clínico muito semelhante à doença em gatos (BILLER et al, 1996;EATON et al, 1997;PEDERSEN et al, 2003;CADNAPAPHORNCHAI et al, 2008).…”

Section: S Cv6luunclassified

“…No presente estudo, a pesquisa da doença renal policística autossômica dominante foi realizada por teste genético, por meio de reação de PCR, com pesquisa da mutação no exon 29 do gene PKD1 felino. Segundo a literatura, uma mutação pontual (troca de C por A) no exon 29 do gene PKD-1 é a causa da doença renal policística nos gatos (HELPS et al, 2007;LEE et al, 2010b), sendo que o teste genético para a pesquisa desta mutação (por meio de técnica de reação de PCR) permite fechar o diagnóstico da afecção (HELPS et al, 2007;SCALOL et al, 2014).…”

Section: S Cv6luunclassified

“…Desta forma, para o diagnóstico correto, o ideal é a realização do ultrassom associado ao teste genético (BONAZZI et al, 2007;BONAZZI et al, 2009). (BARRS et al, 2001;CANNON et al, 2001;BARTHEZ;RIVIER;BEGON, 2003;LEE et al, 2010a;SCALOL et al, 2014); e a PKD pode, também, acometer gatos de outras raças, embora menos comumente (BARTHEZ; RIVIER; BEGON, 2003;SCALOL et al, 2014 (VIRZI et al, 2011;ECDER, 2013); e a prevalência destas alterações varia de 0 a 30% (LUMIAHO et al, 2001). Há relatos de associação entre PKD e afecções cardíacas como hipertensão arterial sistêmica e consequente hipertrofia ventricular, disfunção diastólica, alteração morfológica valvar, prolapso valvar e desenvolvimento de aneurismas em humanos acometidos (LUMIAHO et al, 2001;ECDER, 2013 (LUMIAHO et al, 2001;VIRZI et al, 2011;ECDER, 2013).…”

Section: S Cv6luunclassified

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<b>Avaliação genética de gatos da raça Persa:</b> mapeamento da mutação relacionada à cardiomiopatia hipertrófica de origem familial

Pellegrino¹

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À minha mãe científica, amiga e orientadora, professora Maria Helena Matiko Akao Larsson, por confiar e acreditar em mim desde aluna...por me motivar sempre quando foi preciso...por todo carinho, amor, confiança e amizade...pelos ensinamentos e conselhos pessoais e profissionais. Obrigada por me abrir portas e janelas...por me inserir no mundo da cardiologia que me faz tão realizada. Ao professor Bruno Cogliati, pela ajuda desde o início do projeto...por compartilhar experiências e por ajudar em toda avaliação genética...pela companhia desde as fases iniciais do nosso estudo...por acreditar na ciência e em bons resultados. À professora Alice Maria M.P.D. Libera...pela paz e alegria que transmite...por me ajudar, mesmo sem saber, nos momentos em que mais precisei de motivação...você é especial. Ao meu amigo e irmãozinho Fernando Caratti, por ser tão especial...por estar sempre perto...pela paz e alegria de uma amizade verdadeira...pela proteção, companheirismo...pela sensação de estar sempre bem e em sintonia...obrigada pela companhia, risadas e gordices! À Liz Marques, pela amizade, conselhos, risadas...por me acompanhar nas nossas inúmeras profissões...por estar sempre por perto e disposta a ajudar...pela nossa ligação...pelo quarteto! Aos meus pais, José Domingos Pellegrino e Inês Tezoni Pellegrino, pelo amor, carinho, preocupação, criação...pelos conceitos de certo e errado...pelo amor que recebi em minha infância. Obrigada, pai, pelo exemplo de honestidade e de coração puro que é...é muito bom saber que posso contar com você sempre. Ao meu irmão, Luís Fernando Pellegrino, pelas risadas e aventuras desde criança...por me ensinar que a vida deve ser levada mais leve...por estar sempre comigo nas nossas bagunças...por me fazer rir sempre! Às amigas Débora Santos Barone e Juliana Messias, pela companhia diária...por tornar o trabalho mais divertido...pela amizade, aventuras, risadas, conselhos, risos e choros...obrigada por estarem sempre por perto!

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Prevalence of polycystic kidney disease in Persian and Persian-related cats in western Mexico

Michel-Regalado

Ayala–Valdovinos

Galindo-García

et al. 2022

Journal of Feline Medicine and Surgery

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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.

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Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations

Cited by 6 publications

References 14 publications

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

<b>Avaliação genética de gatos da raça Persa:</b> mapeamento da mutação relacionada à cardiomiopatia hipertrófica de origem familial

Prevalence of polycystic kidney disease in Persian and Persian-related cats in western Mexico

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