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| DAME, M. C. F.; XAVIER, G. M.; OLIVEIRA FILHO, J. P.; BORGES, A. S.; OLIVEIRA, H. N.; RIET-CORREA, F.; SCHILD, A. L.. |
| Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G... |
| Tipo: Artigo de periódico |
Palavras-chave: Albinismo; Mutação sem Sentido; Codão de Parada; Tirosinase; Monofenol monoxigenase; Búfalo; Mutação Hereditária; Albino; Buffaloes; Nonsense Mutation; Stop Codon; Monophenol monooxygenase. |
| Ano: 2012 |
URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/939587 |
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