Mutações associadas à atrofia progressiva da retina em cães da raça Golden Retriever no Brasil
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Data
2022-02-18
Autores
Trecenti-Santana, Anelize de Souza
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
A atrofia progressiva da retina (PRA) é uma enfermidade caracterizada por degeneração das células do tecido da retina, de evolução lenta e cuja sua etiologia no golden retriever envolve mutações em três genes diferentes descritos, prcd-PRA, SLC4A3 e TTC8 . Até o momento a prevalência das mutações associadas á Atrofia progressiva da retina (PRA) em cães da raça Golden Retriever (GR) não foi verificada no Brasil. O objetivo do estudo, foi avaliar a prevalência e frequência alélica das mutações GR_PRA1, GR_PRA2 e prcd-PRA em cães da raça Golden Retriever brasileiros. Para tanto, foram utilizadas 121 amostras de DNA purificados de sangue total ou de saliva de cães da raça Golden Retriever pertencentes de canis e de tutores brasileiros. Regiões do DNA, possivelmente contendo cada uma das mutações, foram amplificados por reação em cadeia da polimerase (PCR) e submetidos ao sequenciamento de Sanger. A genotipagem destes animais foi realizada utilizando os eletroferogramas obtidos nestes sequenciamentos e comparados à sequência nucleotídica dos três genes depositada no GenBank TM . Todos os animais avaliados no estudo foram identificados como wild-type (121/121 animais; 100%) para mutações GR_PRA1 e GR_PRA2, ou seja, não foram identificado animais heterozigotos e homozigotos nesta população. Para a mutação prcd-PRA, 118 animais (118/121 animais; 97%) foram wild-type e 3 animais (3/121 animais; 2,47%) heterozigotos para a mutação. Portanto, a disponibilização do teste genético para as mutações nos permitirá a orientação dos acasalamentos visando a a implantação de medidas de controle para esta enfermidade em cães da raça Golden Retriever no Brasil.
Progressive retinal atrophy (PRA) is a disease characterized by degeneration of retinal tissue cells, of slow evolution and whose etiology in the golden retriever involves mutations in three different genes described, prcd-PRA, SLC4A3 and TTC8. In addition, the lack of clinical knowledge of some of these diseases and, some occasions, the unavailability of the confirmatory genetic test can be an obstacle to the Veterinarian. The prevalence of mutations responsible for Progressive Retinal Atrophy (PRA) in Golden Retriever dogs has not been verified in Brazil, so this study aimed to evaluate the prevalence of GRPRA1, GRPRA2, and prcd-PRA, mutations in Brazilian golden retriever. For this purpose, 121 DNA sample obtained from blood and saliva samples of Golden Retriever dogs from Brazilian kennels or non- commercial owners were used. DNA fragments, containing each of the mutations, were amplified by polymerase chain reaction (PCR) and submitted to Sanger sequencing. The genotypes of these animals were analyzed using the electropherograms obtained in these sequences and compared to the nucleotide sequence of the three genes deposited in GenBankTM . All animals evaluated in the study have been identified as wild type (121/121 animals; 100%) for GR_PRA1 and GR_PRA2 mutations, that is, non-carrier or homozygous animals were identified in this population. For the prcd-PRA mutation, 118 animals (118/121 animals; 97%) were wild type and three animals (3/121 animals; 2,47%) were heterozygous for the mutation. Therefore, the discovery of mutations will allow us to guide the mating to reduce clinical cases of the disease and, if necessary, the implementation of control measures for these diseases in Golden Retriever dogs in Brazil.
Progressive retinal atrophy (PRA) is a disease characterized by degeneration of retinal tissue cells, of slow evolution and whose etiology in the golden retriever involves mutations in three different genes described, prcd-PRA, SLC4A3 and TTC8. In addition, the lack of clinical knowledge of some of these diseases and, some occasions, the unavailability of the confirmatory genetic test can be an obstacle to the Veterinarian. The prevalence of mutations responsible for Progressive Retinal Atrophy (PRA) in Golden Retriever dogs has not been verified in Brazil, so this study aimed to evaluate the prevalence of GRPRA1, GRPRA2, and prcd-PRA, mutations in Brazilian golden retriever. For this purpose, 121 DNA sample obtained from blood and saliva samples of Golden Retriever dogs from Brazilian kennels or non- commercial owners were used. DNA fragments, containing each of the mutations, were amplified by polymerase chain reaction (PCR) and submitted to Sanger sequencing. The genotypes of these animals were analyzed using the electropherograms obtained in these sequences and compared to the nucleotide sequence of the three genes deposited in GenBankTM . All animals evaluated in the study have been identified as wild type (121/121 animals; 100%) for GR_PRA1 and GR_PRA2 mutations, that is, non-carrier or homozygous animals were identified in this population. For the prcd-PRA mutation, 118 animals (118/121 animals; 97%) were wild type and three animals (3/121 animals; 2,47%) were heterozygous for the mutation. Therefore, the discovery of mutations will allow us to guide the mating to reduce clinical cases of the disease and, if necessary, the implementation of control measures for these diseases in Golden Retriever dogs in Brazil.
Descrição
Palavras-chave
Análise de sequência de DNA, Doenças da retina, Doenças genéticas, Cães