<?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>1727-897X</journal-id>
<journal-title><![CDATA[MediSur]]></journal-title>
<abbrev-journal-title><![CDATA[Medisur]]></abbrev-journal-title>
<issn>1727-897X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos, Centro Provincial de Ciencias Médicas, Provincia de Cienfuegos.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1727-897X2021000600917</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Detección del polimorfismo p.K952L en pacientes cubanos con la enfermedad de Wilson]]></article-title>
<article-title xml:lang="en"><![CDATA[p.K952L polymorphism detection in Cuban patients with Wilson's disease]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Clark Feoktistova]]></surname>
<given-names><![CDATA[Yulia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruenes Domech]]></surname>
<given-names><![CDATA[Caridad]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Bacallao]]></surname>
<given-names><![CDATA[Elsa F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Feoktistova]]></surname>
<given-names><![CDATA[Liudmila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Roblejo Balbuena]]></surname>
<given-names><![CDATA[Hilda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Peralta]]></surname>
<given-names><![CDATA[Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Guantánamo  ]]></institution>
<addr-line><![CDATA[Guantánamo ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Gastroenterología  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Nacional de Genética Médica  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Ginecobstétrico Universitario 10 de Octubre  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>19</volume>
<numero>6</numero>
<fpage>917</fpage>
<lpage>923</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1727-897X2021000600917&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1727-897X2021000600917&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1727-897X2021000600917&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento  La enfermedad de Wilson es una entidad rara con patrón de herencia autosómico recesivo, a causa de las mutaciones en el gen ATP7B, lo cual provoca la acumulación de cobre en tejidos y órganos. En la literatura se informan más de 800 polimorfismos.  Objetivo  identificar el polimorfismo p.K952L en los pacientes cubanos con diagnóstico clínico presuntivo de enfermedad de Wilson.  Métodos  se realizó un estudio descriptivo, en el Centro Nacional de Genética Médica y el Instituto Nacional de Gastroenterología, que incluyó 35 pacientes con diagnóstico clínico de la enfermedad de Wilson. La extracción del ADN fue por la técnica de precipitación salina; y la amplificación del fragmento de interés, mediante la técnica de Reacción en Cadena de la Polimerasa. Además, se empleó la técnica de Polimorfismo Conformacional de Simple Cadena para la determinación de los cambios conformacionales y la presencia del polimorfismo p.K952L.  Resultados  en el exón 12 se identificaron los cambios conformacionales denominados b y c, que correspondieron al polimorfismo p.K952L en estado heterocigótico y homocigótico, respectivamente. La frecuencia alélica del polimorfismo p.K952L fue de 38,6 %. Las manifestaciones más frecuentes en los pacientes que presentaron este polimorfismo fueron las hepáticas.  Conclusión  Se identificó el polimorfismo p.K952L en 21 pacientes cubanos con diagnóstico clínico de enfermedad de Wilson, lo cual posibilita ampliar los estudios moleculares por métodos indirectos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background  Wilson's disease is a rare entity with an autosomal recessive inheritance pattern, due to mutations in the ATP7B gene, which causes the accumulation of copper in tissues and organs. More than 800 polymorphisms are reported in the literature.  Objective  to identify the p.K952L polymorphism in Cuban patients with a presumptive clinical diagnosis of Wilson's disease.  Methods  a descriptive study was carried out at the Medical Genetics National Center and the Gastroenterology National Institute, which included 35 patients with a Wilson's disease clinical diagnosis. DNA extraction was by saline precipitation technique; and the amplification of the fragment of interest, by means of the Polymerase Chain Reaction technique. In addition, the Simple Chain Conformational Polymorphism technique was used to determine the conformational changes and the presence of the p.K952L polymorphism.  Results  in exon 12 the conformational changes called b and c were identified, which corresponded to the polymorphism p.K952L in the heterozygous and homozygous state, respectively. The allelic frequency of the p.K952L polymorphism was 38.6%. The most frequent manifestations in patients with this polymorphism were liver.  Conclusion  The p.K952L polymorphism was identified in 21 Cuban patients with a clinical diagnosis of Wilson's disease, which makes it possible to extend molecular studies by indirect methods.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Degeneración hepatolenticular]]></kwd>
<kwd lng="es"><![CDATA[trastornos de la coagulación sanguínea]]></kwd>
<kwd lng="es"><![CDATA[polimorfismo genético]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[patología molecular]]></kwd>
<kwd lng="en"><![CDATA[Hepatolenticular degeneration Genes]]></kwd>
<kwd lng="en"><![CDATA[blood coagulation disorders]]></kwd>
<kwd lng="en"><![CDATA[polymorphism, genetic]]></kwd>
<kwd lng="en"><![CDATA[genetic]]></kwd>
<kwd lng="en"><![CDATA[pathology, molecular]]></kwd>
</kwd-group>
</article-meta>
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