<?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>1729-519X</journal-id>
<journal-title><![CDATA[Revista Habanera de Ciencias Médicas]]></journal-title>
<abbrev-journal-title><![CDATA[Rev haban cienc méd]]></abbrev-journal-title>
<issn>1729-519X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de la Habana]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1729-519X2018000300440</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Estudio molecular del exón 3 del gen atp7b en pacientes cubanos con Enfermedad de Wilson]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular genetic analysis of exon 3 of the ATP7B gene in Cuban patients with Wilson&#8217;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[Roblejo Balbuena]]></surname>
<given-names><![CDATA[Hilda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Collazo Mesa]]></surname>
<given-names><![CDATA[Teresa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Clark Feoktistova]]></surname>
<given-names><![CDATA[Iliana]]></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[,Universidad de Ciencias Médicas de La Habana Facultad de Ciencias Médicas &#8220;10 de Octubre&#8221; ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<volume>17</volume>
<numero>3</numero>
<fpage>440</fpage>
<lpage>450</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1729-519X2018000300440&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1729-519X2018000300440&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1729-519X2018000300440&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La Enfermedad de Wilson es una enfermedad con patrón de herencia autosómico recesivo. Es causada por las mutaciones en el gen atp7b. El exón 3 del gen atp7b es polimórfico y se informan más de 120 polimorfismos en el gen atp7b.  Objetivo:  Identificar los cambios conformacionales en el exón 3 del gen atp7b y detectar polimorfismos en pacientes cubanos con diagnóstico clínico presuntivo de la enfermedad de Wilson.  Materiales y Métodos:  Se realizó un estudio descriptivo, en el Centro Nacional de Genética Médica y en el Instituto Nacional de Gastroenterología, durante el período 2007-2013, que incluyó 105 pacientes con diagnóstico clínico presuntivo de la enfermedad de Wilson. La extracción del ADN fue por la técnica de precipitación salina. Se utilizó la técnica de Reacción en Cadena de la Polimerasa para la amplificación del fragmento de interés, y para detectar los cambios conformacionales y la presencia del polimorfismo p.L456V, se usó la técnica de Polimorfismo Conformacional de Simple Cadena, en el exón 3 del gen atp7b.  Resultados:  En el exón 3 se detectan los cambios conformacionales denominados  b y  c que correspondieron al polimorfismo p.L456V en estado heterocigótico y homocigótico respectivamente. La frecuencia alélica del polimorfismo p.L456V es de 41 %. Las manifestaciones más frecuentes en los pacientes que presentaron este polimorfismo son las hepáticas.  Conclusiones:  Se identificó el polimorfismo p.L456V en 64 pacientes cubanos con diagnóstico clínico de la enfermedad de Wilson, lo cual posibilitará hacer estudios moleculares por métodos indirectos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Wilson's disease is a rare inherited autosomal recessive disorder caused by mutations in the ATP7B gene. The exon 3 of the ATP7B gene is polymorphic, and more than 120 polymorphisms of this type have been reported in the literature.  Objective:  To identify conformational band shifts in exon 3 and detect polymorphisms of the ATP7B gene in Cuban patients, clinically diagnosed with Wilson's disease.  Materials and Methods:  A descriptive study including 105 patients with the clinical diagnosis of Wilson's disease was conducted at the National Center for Medical Genetics and the National Institute of Gastroenterology from 2007 to 2013. Salting-out protocol was used for DNA extraction. The Polymerase Chain Reaction was used to amplify the fragment of interest and the Single-Strand Conformational Polymorphism was applied in the region of exon 3 of the ATP7B gene to identify conformational changes and the presence of the polymorphism p.L456V.  Results:  The conformational change called B and C corresponded to the p.L456V polymorphism in the heterozygous and homozygous states, respectively. The allelic frequency of the p.L456V polymorphism in 105 Cuban patients clinically diagnosed with Wilson's disease was 41 %. The most common manifestations in patients with this polymorphism were related to the liver.  Conclusion:  The p.L456V polymorphism was identified in 64 Cuban patients with Wilson disease, which will enable us to conduct molecular studies by indirect methods.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad de Wilson]]></kwd>
<kwd lng="es"><![CDATA[exón 3]]></kwd>
<kwd lng="es"><![CDATA[SSCP]]></kwd>
<kwd lng="es"><![CDATA[técnica de precipitación salina]]></kwd>
<kwd lng="es"><![CDATA[técnica de Reacción en Cadena de la Polimerasa]]></kwd>
<kwd lng="en"><![CDATA[Wilson disease]]></kwd>
<kwd lng="en"><![CDATA[polymorphism]]></kwd>
<kwd lng="en"><![CDATA[exon 3]]></kwd>
<kwd lng="en"><![CDATA[SSCP]]></kwd>
<kwd lng="en"><![CDATA[Polymerase Chain Reaction]]></kwd>
<kwd lng="en"><![CDATA[salting-out]]></kwd>
</kwd-group>
</article-meta>
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