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      Detección de una mutación puntual en el gen receptor Ryanodina (Ryr 1) en cerdos criollos colombianos Translated title: Detection of a single mutation point in Ryanodine receptor gene (Ryr 1) in colombian creole pigs

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          Abstract

          El síndrome de estrés porcino (PSS) es una enfermedad hereditaria monogénica recesiva relacionada con el gen receptor ryanodina (Ryr1). Utilizando PCR-SSCP y PCR-RFLP se tipificaron genéticamente 14 individuos de cerdos comerciales con el rasgo sindactilia (Casco de Mula-CM), 21 San Pedreños -SP y 100 Zungos- ZN. Las razas CM y SP tuvieron las mismas frecuencias alélicas (F(H) = 0.79 y F(h) = 0.21), mientras que en los cerdos ZN no se encontró el alelo recesivo (h). La heterocigosidad (He) fue de 0.28% para los cerdos CM y 0.23% para los SP. La He para la muestra poblacional fue de 0.066.

          Translated abstract

          The Porcine Stress Syndrome is a hereditary monogenic recessive disease related with Ryanodine Receptor gen (Ryr1). Using PCR-SSCP and PCR-RFLP 14 animals of commercial breed with Mule foot characteristic (CM), 21 San Pedreño breed (SP) and 100 Zungo breed (ZN) were genotipificated. Allelic frequency for CM and SP was the same (F(H) = 0.79 y F(h) = 0.21), while in ZN there was no evidence of recessive allele (h). Heterocigosity (He) was 0.28% for CM and 0.23% for SP. He value for population sample was 0.066.

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          Most cited references9

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          Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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            Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia

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              Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.

              The substitutions of T for C1843 in the porcine ryanodine receptor (RYR1) gene, which deletes a HinPI restriction endonuclease site and creates a HgiAI site, and of T for C1840 in human RYR1, which deletes a RsaI site, lead to Cys for Arg substitutions in the ryanodine receptors and are probable causal mutations for malignant hyperthermia (MH). To improve the restriction endonuclease assay of these sites, thereby providing an accurate, reliable diagnosis for MH, introns flanking the exon containing the mutation were sequenced, permitting identification and PCR amplification of a 659-bp porcine gene sequence that contains both constant and variant HgiAI sites and a 922-bp human gene sequence that contains both constant and variant RsaI sites. As a result, these PCR-amplified sequences contain constant internal controls for the reliable differentiation by restriction endonuclease digestion of normal, heterozygous, and MH genotypes.
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                Author and article information

                Journal
                acag
                Acta Agronómica
                Acta Agron.
                Universidad Nacional de Colombia (Palmira, Valle, Colombia )
                0120-2812
                December 2008
                : 57
                : 4
                : 275-278
                Affiliations
                [01] Palmira Valle del Cauca orgnameUniversidad Nacional de Colombia orgdiv1Facultad de Ciencias Agropecuarias Colombia jemunozf@ 123456palmira.unal.edu.co.
                Article
                S0120-28122008000400010 S0120-2812(08)05700410
                3964682a-3ec5-495a-a7d0-5cce85ae8801

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                : 11 November 2008
                : 23 April 2008
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 12, Pages: 4
                Product

                SciELO Colombia

                Categories
                Articulos Originales

                PCR-SSCP,cerdos criollos,Estrés porcino,PCR-RFLP,porcine stress,Creole pigs,PCR-RFLP,

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