Prevalência da mutação causadora da paralisia periódica hipercalêmica em equinos da raça Quarto de Milha no Brasil

• Autor(a) principal: Delfiol, Diego José Zanzarini
• Data de Publicação: 2015
• Outros Autores: Oliveira-Filho, José Paes de [UNESP], Battazza, Alexandre [UNESP], Souza, Carla Pinheiro de [UNESP], Badial, Peres Ramos [UNESP], Araújo Júnior, João Pessoa [UNESP], Borges, Alexandre Secorun [UNESP]
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNESP
• Texto Completo: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782015000500854&lng=pt&nrm=iso&tlng=en; http://hdl.handle.net/11449/127313
• topic: Gene; Horses; Genetic disease; HYPP; SCN4A; Cavalos; Doença genética; HYPP; Gene SCN4A

Hyperkalemic Periodic Paralysis (HYPP) is one of the major dominant genetic diseases which affect Quarter horses (QH). The HYPP is caused by a point mutation in the SCN4A gene and despite the presence of HYPP in Brazilian QH, limited data on the disease prevalence are available. The aim of this study was to investigate the HYPP mutation in QH belonging to reining (n=160), cutting (n=160), barrel racing (n=160), racing (n=160) and halter (n=101) competitive disciplines. Blood DNA from 741 horses were used. Genetic tests were standardized and samples were sequenced to identify the mutation on the target gene. The prevalence of HYPP on the sampled population was 4.2% and the positive animals (30.7%) were only identified in the halter lineage. More effective actions on HYPP control should be done to reduce the disease prevalence.