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Using PCR-SSCP for detecting polymorphism 1843 in the ryanodine receptor gene

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Author(s): Susan L. Castro-Molina | Manuel F. Ariza-Botero | Marcela Ríos-Rodriguez | Diana J. Moreno | Germán H. Guerrero-Castillo

Journal: Orinoquia
ISSN 0121-3709

Volume: 15;
Issue: 2;
Start page: 192;
Date: 2011;
Original page

Keywords: Porcine stress | mutation | PCR-SSCP | ryanodine receptor gene

ABSTRACT
Pig stress syndrome (PSS) is a genetic disease caused by a nucleotide mutation in the RYR-2 gene encoding the ryanodine receptor (RYR-1), considered an autosomal recessive condition. PSS, or malignanthyperthermia, is characterised by the lowering of meat quality and animal death, leading to a pale, smooth and exhudative (PSE) carcass. The syndrome is triggered in genetically-susceptible individuals either by anaesthetic agents, like halothane, or stress conditions, such as transport, crowding and mating. Information about this syndrome’s incidence and presence in Colombia is currently quite scarce.This study was aimed at determining the presence of the RYR-I T-allele in a porcine population from the Universidad National de Colombia’s Marengo farm to identify individuals which were more susceptible tothe syndrome. A total of 50 pigs (27 males and 23 females) were selected at random. CC genotype frequency for males was 0.59, 0.37 for the CT genotype and 0.04 for the TT genotype; in females this was 0.65 for the CC genotype, 0.13 for CT and 0.22 for TT. A total of 31 (62 %) individuals were considered healthy (CC), 13 (26 %) were carriers (CT) and six (12 %) were susceptible (TT). C and T allele frequency was 0.75 and 0.25, respectively. Hardy-Weinberg equilibrium comparison tests revealed that the population was in genetic disequilibrium (p ≤ 0.05). The results did show the presence of the allele responsible for the syndrome; this is a very significant factor to be considered when establishing an appropriate animal breeding programme by using marker-assisted selection.
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