Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorAndrade, Larissa R. [UNESP]-
Autor(es): dc.creatorCaceres, Amanda M. [UNESP]-
Autor(es): dc.creatorTrecenti, Anelize S. [UNESP]-
Autor(es): dc.creatorBrandão, Claudia Valeria S. [UNESP]-
Autor(es): dc.creatorGandolfi, Micaella G. [UNESP]-
Autor(es): dc.creatorAguiar, Evian V. [UNESP]-
Autor(es): dc.creatorAndrade, Danilo G.A. [UNESP]-
Autor(es): dc.creatorBorges, Alexandre S. [UNESP]-
Autor(es): dc.creatorOliveira-Filho, Jose P. [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:27:59Z-
Data de disponibilização: dc.date.available2022-02-22T00:27:59Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2019-10-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.3390/ani9100844-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/199661-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/199661-
Descrição: dc.descriptionProgressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod-cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.-
Descrição: dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)-
Descrição: dc.descriptionDepartment of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (Unesp)-
Descrição: dc.descriptionSão Paulo State University (Unesp) Medical School-
Descrição: dc.descriptionDepartment of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (Unesp)-
Descrição: dc.descriptionSão Paulo State University (Unesp) Medical School-
Descrição: dc.descriptionCNPq: 100232/2018-3-
Idioma: dc.languageen-
Relação: dc.relationAnimals-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectDiagnosis-
Palavras-chave: dc.subjectGenetic disease-
Palavras-chave: dc.subjectGenotyping-
Palavras-chave: dc.subjectPrcd-PRA-
Título: dc.titleAllele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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