<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312025000100003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Análisis molecular del gen GALT en pacientes cubanos con galactosemia clásica]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular Analysis of GALT Gene in Cuban Patients with Classical Galactosemia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Reyes]]></surname>
<given-names><![CDATA[Ixchel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Esperón-Álvarez]]></surname>
<given-names><![CDATA[Antonio Alejandro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Merencio-Santos]]></surname>
<given-names><![CDATA[Lainet]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Heredia]]></surname>
<given-names><![CDATA[Marileivis]]></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-group>
<aff id="Af1">
<institution><![CDATA[,Centro Nacional de Genética Médica Departamento de Biología Molecular ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<volume>97</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312025000100003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312025000100003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312025000100003&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La galactosemia clásica es el trastorno genético del metabolismo de la galactosa más severo y de mayor prevalencia a nivel mundial. Es causada por mutaciones en el gen GALT, en el cual se han identificado más de 300 variantes alélicas. En Cuba no se han realizado estudios moleculares para identificar las mutaciones presentes en los pacientes.  Objetivo: Identificar variantes alélicas del gen GALT en pacientes cubanos con galactosemia clásica.  Métodos: Se aisló el ADN genómico de 29 pacientes por el método de precipitación salina. Se realizó la detección de seis mutaciones mediante la reacción en cadena de la polimerasa-digestión enzimática-electroforesis. La secuenciación del gen GALT se efectuó en diez muestras.  Resultados: Por medio de la reacción en cadena de la polimerasa-digestión enzimática-electroforesis se detectaron las mutaciones p.Q188R, p.L195P, p.S135L, p.N314D y p.L218L. Además, se identificaron seis mutaciones mediante la secuenciación, tres en la región exónica: p.F171S, p.T292T y p.H315H; y tres en la intrónica: c.378-27G&gt;C, c.507+62G&gt;A y c.508-24G&gt;A.  Conclusiones: Las mutaciones halladas evidencian la heterogeneidad genética alélica de la galactosemia clásica en la población cubana. Este conocimiento puede contribuir a perfeccionar el diagnóstico molecular prenatal y posnatal, el estudio de portadores, y el asesoramiento genético de pacientes y familiares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Classical galactosemia is the most severe and prevalent genetic disorder of galactose metabolism worldwide. It is caused by mutations in GALT gene, in which more than 300 allelic variants have been identified. No molecular studies have been performed in Cuba to identify the mutations present in patients.  Objective:  To identify allelic variants of GALT gene in Cuban patients with classical galactosemia.  Methods:  Genomic DNA was isolated from 29 patients by the salt precipitation method. Six mutations were detected by polymerase chain reaction-enzymatic digestion-electrophoresis. GALT gene sequencing was performed on ten samples.  Results:  The mutations p.Q188R, p.L195P, p.S135L, p.N314D and p.L218L were detected by polymerase chain reaction-enzymatic digestion-electrophoresis. In addition, six mutations were identified by sequencing, three in the exonic region: p.F171S, p.T292T and p.H315H; and three in the intronic region: c.378-27G&gt;C, c.507+62G&gt;A and c.508-24G&gt;A.  Conclusions:  The mutations found show the allelic genetic heterogeneity of classical galactosemia in the Cuban population. This knowledge can contribute to improving prenatal and postnatal molecular diagnosis, the study of carriers, and genetic counseling of patients and family members.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad por deficiencia de galactosa-1-fosfato uridiltransferasa]]></kwd>
<kwd lng="es"><![CDATA[frecuencia alélica]]></kwd>
<kwd lng="es"><![CDATA[heterogeneidad genética]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="en"><![CDATA[galactose-1-phosphate uridyltransferase deficiency disease]]></kwd>
<kwd lng="en"><![CDATA[allele frequency]]></kwd>
<kwd lng="en"><![CDATA[genetic heterogeneity]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
</kwd-group>
</article-meta>
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