<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1887-8571</journal-id>
<journal-title><![CDATA[Sanidad Militar]]></journal-title>
<abbrev-journal-title><![CDATA[Sanid. Mil.]]></abbrev-journal-title>
<issn>1887-8571</issn>
<publisher>
<publisher-name><![CDATA[Ministerio de Defensa]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1887-85712020000100002</article-id>
<article-id pub-id-type="doi">10.4321/s1887-85712020000100002</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Análisis de curvas de fusión de alta resolución para la tipificación de la mutación de la abiotrofia cerebelar equina]]></article-title>
<article-title xml:lang="en"><![CDATA[High resolution melting analysis for the equine cerebellar abiotrophy mutation typing]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jiménez Heredia]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quiñones Pérez]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ojeda Durán]]></surname>
<given-names><![CDATA[FJ]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Matínez-Pinna Vallejo]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gaudó Hernández]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vega-Pla]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Ministerio de Defensa Secretaría General para la Administración Pública Laboratorio de Investigación Aplicada. Servicio de Cría Caballar de las Fuerzas Armadas]]></institution>
<addr-line><![CDATA[Córdoba ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Ministerio de Defensa Secretaría General para la Administración Pública &gt;Laboratorio de Investigación Aplicada. Servicio de Cría Caballar de las Fuerzas Armadas]]></institution>
<addr-line><![CDATA[Córdoba ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Ministerio de Defensa Secretaría General para la Administración Pública &gt;Laboratorio de Investigación Aplicada. Servicio de Cría Caballar de las Fuerzas Armadas]]></institution>
<addr-line><![CDATA[Córdoba ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Ministerio de Defensa Secretaría General para la Administración Pública Centro Militar de Cría Caballar de Mazcuerras]]></institution>
<addr-line><![CDATA[Mazcuerras ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Ministerio de Defensa Secretaría General para la Administración Pública &gt;Laboratorio de Investigación Aplicada. Servicio de Cría Caballar de las Fuerzas Armadas]]></institution>
<addr-line><![CDATA[Córdoba ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<volume>76</volume>
<numero>1</numero>
<fpage>8</fpage>
<lpage>12</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1887-85712020000100002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1887-85712020000100002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1887-85712020000100002&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: la abiotrofia cerebelar equina es una enfermedad neurodegenerativa de etiología genética autosómica y recesiva. Se presenta con más frecuencia en el Pura Raza Árabe. La enfermedad está causada por una mutación puntual que produce una degeneración progresiva de las células de Purkinje.  Objetivos: puesta a punto de una técnica sencilla, empleando el análisis de curvas de fusión de alta resolución (HRM), que permita identificar los individuos portadores de la mutación causante de la abiotrofia cerebelosa en los ancestros de un animal enfermo.  Material y métodos: extracción de ADN de 93 muestras de sangre provenientes de animales emparentados. Diseño y selección de una pareja de cebadores para la amplificación de una secuencia de 89 pares de bases que contiene la mutación. Amplificación de la secuencia y análisis de las curvas de fusión.  Resultados: el análisis genealógico confirmó el carácter autosómico recesivo de la enfermedad. La amplificación no generó fragmentos inespecíficos. La técnica de análisis HRM permitió diferenciar de forma inequívoca los genotipos homocigotos sano y enfermo, y también el genotipo heterocigoto de los portadores sanos. Los resultados coinciden con los obtenidos mediante la técnica de análisis de fragmentos publicada en 2011.  Conclusión: la técnica desarrollada permite detectar caballos portadores de la abiotrofia cerebelosa de forma sencilla.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  Introduction: the equine cerebellar abiotrophy is an autosomal recessive neurodegenerative disease. It has been more frequently described in the Arabian horse. The causative mutation produces a progressive degeneration of Purkinje cells.  Objectives: developing a simple technique based on the high-resolution melt analysis (HRM) in order to identify the carriers of the mutation among a group of ancestors of an affected horse.  Material and methods: DNA extraction of 93 blood samples from a group of related animals. Primers designed to amplify an 89 base pair sequence that contains the mutation. Amplification of the sequence and melting curves analysis.  Results: the genealogical analysis confirms the autosomal recessive nature of disease. The amplification did not generate nonspecific fragments. The HRM analysis allowed the differentiation of healthy and affected homozygous genotypes, and also the differentiation of the carrier, heterozygous genotype. Our results concur with those obtained using the fragment analysis technique published in 2011.  Conclusion: high resolution melting analysis is a simple technique that allows the detection of cerebellar abiotrophy carriers in horses.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Abiotrofia cerebelar equina]]></kwd>
<kwd lng="es"><![CDATA[Mutación]]></kwd>
<kwd lng="es"><![CDATA[Curvas de fusión de alta resolución (HRM)]]></kwd>
<kwd lng="es"><![CDATA[Caballo]]></kwd>
<kwd lng="en"><![CDATA[Equine cerebellar abiotrophy]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[High resolution melting analisys (HRM)]]></kwd>
<kwd lng="en"><![CDATA[Horse]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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