<?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>1405-888X</journal-id>
<journal-title><![CDATA[TIP. Revista especializada en ciencias químico-biológicas]]></journal-title>
<abbrev-journal-title><![CDATA[TIP]]></abbrev-journal-title>
<issn>1405-888X</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Zaragoza]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1405-888X2020000100108</article-id>
<article-id pub-id-type="doi">10.22201/fesz.23958723e.2020.0.262</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Análisis de la mutación c.187 C&gt;T en el gen ATP6V0A2 mediante PCR-ARMS]]></article-title>
<article-title xml:lang="en"><![CDATA[Analysis of the c.187 C&gt; T mutation in ATP6V0A2 by PCR-ARMS]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Domínguez]]></surname>
<given-names><![CDATA[Carlos Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Valdez]]></surname>
<given-names><![CDATA[Jaime]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Duncker Ramírez]]></surname>
<given-names><![CDATA[Iván]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salinas-Marín]]></surname>
<given-names><![CDATA[Roberta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Autónoma del Estado de Morelos Centro de Investigación en Dinámica Celular Lab. de Glicobiología Humana y Diagnóstico Molecular]]></institution>
<addr-line><![CDATA[Cuernavaca Morelos]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centenario Hospital Miguel Hidalgo Departamento de Genética ]]></institution>
<addr-line><![CDATA[ Aguascalientes]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2020</year>
</pub-date>
<volume>23</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1405-888X2020000100108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1405-888X2020000100108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1405-888X2020000100108&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Los desórdenes conge&#769;nitos de la glicosilación (CDG) son enfermedades poco frecuentes (EPOF) de tipo metabólico y hereditarias que ocurren como consecuencia de mutaciones en los genes que codifican para proteínas que participan, directa o indirectamente, en este proceso. La enfermedad clínicamente denominada Cutis Laxa Autosómica Recesiva tipo II-A (ARCL2A) es un tipo de CDG (ATP6V0A2-CDG) causado por mutaciones en ATP6V0A2, que codifica para la subunidad a2 del dominio v0 de una ATPasa vacuolar que tiene como función el transporte de iones H+ a través de las membranas celulares, regulando así el pH de los compartimentos celulares, e incluye la acidificación del aparato de Golgi. En 2014, nuestro grupo de investigación reportó por primera vez en México, la existencia de dos pacientes con ATP6V0A2-CDG. En este trabajo, se estableció una metodología para identificar a los portadores de la mutación c.187 C&gt;T en el ATP6V0A2 mediante PCR-ARMS.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Congenital disorders of glycosylation (CDG) are rare hereditary metabolic diseases (EPOF) that occur as a result of mutations in the genes coding for proteins involved direct or indirectly in this process. Autosomal Recessive Cutis Laxa disease type II-A (ARCL2A) is a type of CDG (ATP6V0A2-CDG) caused by mutations in ATP6V0A2, which codes for the a2 subunit of the v0 domain of a vacuolar ATPase that has the function of transporting H+ through cell membranes, regulating pH in cells compartments, including Golgi acidification. In 2014, our research group reported the first two cases of ATP6V0A2-CDG in Mexico. In this work, a methodology was established to identify carriers of the c.187 C&gt; T mutation in ATP6V0A2 by PCR-ARMS.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[CDG]]></kwd>
<kwd lng="es"><![CDATA[cutis laxa]]></kwd>
<kwd lng="es"><![CDATA[ATP6V0A2]]></kwd>
<kwd lng="es"><![CDATA[ARCL2A]]></kwd>
<kwd lng="es"><![CDATA[PCR-ARMS]]></kwd>
<kwd lng="en"><![CDATA[CDG]]></kwd>
<kwd lng="en"><![CDATA[cutis laxa]]></kwd>
<kwd lng="en"><![CDATA[ATP6V0A2]]></kwd>
<kwd lng="en"><![CDATA[ARCL2A]]></kwd>
<kwd lng="en"><![CDATA[PCR-ARMS]]></kwd>
</kwd-group>
</article-meta>
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