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首页> 外文期刊>Livestock Science >SNaPshot based genotyping of the RYR1 mutation in Portuguese breeds of pigs.
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SNaPshot based genotyping of the RYR1 mutation in Portuguese breeds of pigs.

机译：基于SNaPshot的葡萄牙猪种RYR1突变的基因分型。

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摘要

The porcine stress syndrome or malignant hyperthermia is an inherited autosomic recessive disease, which results in neuromuscular disorders leading to death in homozygous individuals and is associated with deterioration of meat quality. The defect in susceptible animals results from modifications in the calcium release channel or Ryanodine Receptor (RYR1), with a mutation leading to a C to T transition in nucleotide 1843 of the gene. The objective of this work was to develop a method based on analysis of SNPs to detect the mutation described in the RYR1 locus in pigs, and study polymorphisms of the gene in four exotic (Large White, Landrace, Duroc and Pietrain) and three native (Bisaro, Alentejano and Malhado de Alcobaca) breeds of pigs in Portugal. The method was successful in identifying the mutation by analysis of SNPs, and results indicate a high incidence of the mutant allele in Pietrain (0.75) and, to a lesser degree, in Malhado de Alcobaca (0.34) and Landrace (0.28); frequencies in Alentejano, Bisaro and Large White ranged between 0.04 and 0.09. These results suggest the need to establish breeding programs aimed at eliminating the susceptibility allele from those populations.
机译：猪应激综合症或恶性高热是一种遗传的常染色体隐性遗传疾病，导致神经肌肉疾病，导致纯合子个体死亡，并与肉质下降有关。易感动物的缺陷是由钙释放通道或Ryanodine受体（RYR1）的修饰引起的，该突变导致基因1843处的C到T过渡。这项工作的目的是开发一种基于SNP分析的方法，以检测猪RYR1基因座中描述的突变，并研究四个外来物种（大白，长白，杜洛克和Pietrain）和三个原生（ Bisaro，Alentejano和Malhado de Alcobaca）是葡萄牙的猪。该方法通过分析SNPs成功鉴定了突变，结果表明该突变等位基因在Pietrain（0.75）和Malhado de Alcobaca（0.34）和Landrace（0.28）中的发生率较低; Alentejano，Bisaro和Large White的频率在0.04至0.09之间。这些结果表明有必要建立旨在消除那些种群中易感性等位基因的育种计划。

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