510 resultados para Mutação INDEL
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Pós-graduação em Química - IQ
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Pós-graduação em Ciências Biológicas (Zoologia) - IBB
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Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB
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Dermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.
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O objetivo desta comunicação foi descrever a detecção de coexistência de variantes HIV-1 com inserções de dois aminoácidos entre os códons 69 e 70 da transcriptase reversa. Tais variantes foram isoladas de paciente do sexo masculino, 16 anos de idade, em tratamento no interior do estado de São Paulo. Após confirmação de falha terapêutica, foi realizado teste de resistência a antirretrovirais, a partir do qual foram detectadas duas variantes contendo inserções dos aminoácidos Ser-Gly/Ser-Ala no códon 69 da transcriptase reversa, além da mutação T69S. Tais inserções possuem baixa prevalência, não foram relatadas em caráter de coexistência no Brasil e estão relacionadas com a resistência a múltiplas drogas, tornando o achado relevante do ponto de vista epidemiológico.
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The exercise-induced collapse (EIC) is a hereditary disease characterized by muscle weakness, impaired locomotion and collapse after intense exercise. This autossomic recessive disorder affects mainly Labrador Retriever presenting the mutation c.767G>T in the dynamin 1 (DNM1) gene. The objective of this study is to report the first case of exercise-induced collapse in Labrador Retriever in Brazil. The molecular test detected the specific genetic mutation and confirmed the clinical diagnosis in a Labrador Retriever with clinical history of weakness and collapse after exercise. It is important to include this disease as part of the differential diagnosis of neuromuscular diseases in Labrador Retriever and use the molecular test to guide matings.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Pós-graduação em Genética e Melhoramento Animal - FCAV
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Pós-graduação em Química - IQ
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Pós-graduação em Biotecnologia - IQ
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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The genetic inheritance, beyond determining the regular features of all the live beings, can also be the cause of diseases, called as hereditary or genetic diseases. In the case of livestock, especially cattle, little genetic variation, by the use of the same sires for a long time, can facilitate the emergence of problems. In this study, we reviewed eight of the most important genetic diseases in cattle herds around the world, whose mutation has already been characterized. Some of these diseases are reported in Brazil, but there are few studies and articles on this subject, due to the difficulty of a definitive diagnosis, which often is only possible with the use of molecular biology techniques. The knowledge of the disorders and the correct diagnosis are essential to initiate an action plan aimed at eradicating them