<?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>0034-7418</journal-id>
<journal-title><![CDATA[Revista Colombiana de Ciencias Químico - Farmacéuticas]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. colomb. cienc. quim. farm.]]></abbrev-journal-title>
<issn>0034-7418</issn>
<publisher>
<publisher-name><![CDATA[Departamento de Farmácia, Facultad de Ciencias, Universidade Nacional da Colombia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-74182023000200720</article-id>
<article-id pub-id-type="doi">10.15446/rcciquifa.v52n2.104393</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Variantes alélicas de CYP2D6: *3, *4, *5 y *6 en pacientes con enfermedad de Huntington residentes en el municipio de Juan de Acosta, Atlántico (Colombia)]]></article-title>
<article-title xml:lang="en"><![CDATA[CYP2D6 allelic variants: *3, *4, *5 and *6 in patients with Huntington's disease residing in the municipality of Juan de Acosta, Atlántico (Colombia)]]></article-title>
<article-title xml:lang="pt"><![CDATA[Variantes alélicas de CYP2D6: *3, *4, *5 e *6 em pacientes com doença de Huntington residentes no município de Juan de Acosta, Atlântico (Colômbia)]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Cuan]]></surname>
<given-names><![CDATA[Aracely del Carmen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Flórez Cifuentes]]></surname>
<given-names><![CDATA[Jennifer Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Macías Puente]]></surname>
<given-names><![CDATA[María Fernanda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Navarro Navarro]]></surname>
<given-names><![CDATA[Jaime Antonio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rondón González]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Libre  ]]></institution>
<addr-line><![CDATA[Barranquilla ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2023</year>
</pub-date>
<volume>52</volume>
<numero>2</numero>
<fpage>720</fpage>
<lpage>740</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0034-74182023000200720&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0034-74182023000200720&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0034-74182023000200720&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[ Introducción las variaciones del metabolismo de fármacos se basan en factores constitucionales, genéticos y ambientales; por tanto, conocer el tipo y frecuencias alélicas del polimorfismo del gen CYP2D6 de pacientes con enfermedad de Huntington es relevante en la aplicación y eficacia de tratamientos farmacológicos beneficiosos y que mejoren su calidad de vida.  Objetivo establecer las frecuencias alélicas y genotípicas del gen CYP2D6: *3, *4, *5 y *6 en una muestra poblacional de pacientes con enfermedad de Huntington en Juan de Acosta, Colombia.  Materiales y métodos estudio transversal, con muestreo de conveniencia no probabilístico constituido por 23 individuos: 10 pacientes con signos y síntomas de la condición, 5 familiares y 8 personas no relacionadas. Previa firma de consentimiento informado, en muestras de sangre periférica se aisló y cuantificó ADN en espectrofotómetro UV-Vis. La identificación de polimorfismos: *3, *4 y *6 se realizó por variante RFLP-PCR convencional y digestión con endonucleasas. El alelo *5 y duplicación del gen CYP2D6 se genotiparon mediante PCR real múltiple.  Resultados en la muestra poblacional los alelos CYP2D6 *4 y *6 tienen frecuencias de 0,304 y 0,435, respectivamente; CYP2D6 *3 es monomórfico; asumiendo equilibrio genético poblacional, la frecuencia del alelo mutado *5 es 0,295 y de 0,511, la duplicación CYP2D6.  Conclusiones el genotipo más representado en la población fue el alelo silvestre *1/*1 de CYP2D6*3, homocigótico, el genotipo *4/*4 con alelo mutado representa 30,4%; finalmente, una frecuencia de 26,1% con duplicación/multiplicación de alelos CYP2D6 activos, valor mayor a los reportados en poblaciones mestizas hispanoamericanas y colombiana.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Introduction Variations in drug metabolism are based on constitutional, genetic and environmental factors; therefore, knowing the type and allelic frequencies of the CYP2D6 gene polymorphism in patients with Huntington's disease is relevant in the application and efficacy of available pharmacological treatments that are beneficial and improve their quality of life.  Aim To establish the allelic and genotype frequencies of the CYP2D6 gene: *3, *4, *5 and *6 in a population sample of patients with Huntington's disease in Juan de Acosta, Colombia.  Material and methods Cross- sectional study, with non- probabilistic convenience sampling consisting of 23 individuals: 10 patients with signs and symptoms of the condition, 5 relatives and 8 unrelated people. After signing the informed consent, DNA was isolated and quantified in peripheral blood samples using a UV- Vis spectrophotometer. The identification of polymorphism: *3, *4 and *6 was performed by Variant RFLP- conventional PCR and digestion with endonucleases. The *5 allele and CYP2D6 gene duplication were genotyped by multiplex real PCR.  Results In the population sample, the CYP2D6 *4 and *6 alleles have frequencies 0.304 and 0.435, respectively; CYP2D6 *3 is monomorphic; assuming population genetic equilibrium, the frequency of the mutated allele *5 is 0.295 and 0.511, the CYP2D6 duplication.  Conclusions The most represented genotype in the population was the wild type *1/*1 of CYP2D*3, homozygous, the genotype *4/*4 with mutated allele represents 30.4%; finally, a frequency of 26.1% with duplication/multiplication of active CYP2D6 alleles, a higher value than those reported in the Hispano-American and Colombian populations.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[ Introdução variações no metabolismo de drogas são baseadas em fatores constitucionais, genéticos e ambientais; portanto, conhecer o tipo e as frequências alélicas do polimorfismo do gene CYP2D6 em pacientes com doença de Huntington é relevante na aplicação e eficácia de tratamentos farmacológicos benéficos que melhoram sua qualidade de vida.  Objetivo estabelecer as frequências alélicas e genotípicas do gene CYP2D6: *3, *4, *5 e *6 em uma amostra populacional de pacientes com doença de Huntington em Juan de Acosta, Colômbia.  Materiais e métodos estudo transversal, com amostragem não probabilística por conveniência composta por 23 indivíduos: 10 pacientes com sinais e sintomas da doença, 5 familiares e 8 pessoas não aparentadas. Após assinatura do termo de consentimento livre e esclarecido, o DNA foi isolado e quantificado em amostras de sangue periférico em espectrofotômetro UV-Vis. A identificação dos polimorfismos: *3, *4 e *6 foi realizada pela variante RFLP-PCR convencional e digestão com endonucleases. O alelo *5 e a duplicação do gene CYP2D6 foram genotipados por PCR multiplex real.  Resultados na amostra populacional, os alelos CYP2D6 *4 e *6 apresentam frequências de 0,304 e 0,435, respectivamente; CYP2D6 *3 é monomórfico; assumindo o equilíbrio genético da população, a frequência do alelo *5 mutado é 0,295 e a duplicação CYP2D6 é 0,511.  Conclusões o genótipo mais representado na população foi o alelo selvagem *1/*1 de CYP2D6*3, homozigoto, o genótipo *4/*4 com alelo mutado representa 30,4%; por fim, uma frequência de 26,1% com duplicação/multiplicação dos alelos CYP2D6 ativos, valor superior aos relatados em populações hispano-americanas e mestiças colombianas.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad de Huntington]]></kwd>
<kwd lng="es"><![CDATA[genotipo]]></kwd>
<kwd lng="es"><![CDATA[CYP2D6]]></kwd>
<kwd lng="es"><![CDATA[clozapina]]></kwd>
<kwd lng="es"><![CDATA[tetrabenazina]]></kwd>
<kwd lng="es"><![CDATA[farmacogenética]]></kwd>
<kwd lng="es"><![CDATA[frecuencia alélica]]></kwd>
<kwd lng="en"><![CDATA[Huntington's disease]]></kwd>
<kwd lng="en"><![CDATA[CYP2D6 genotype]]></kwd>
<kwd lng="en"><![CDATA[clozapine]]></kwd>
<kwd lng="en"><![CDATA[tetrabenazine]]></kwd>
<kwd lng="en"><![CDATA[pharmacogenetics]]></kwd>
<kwd lng="en"><![CDATA[allelic frequency]]></kwd>
<kwd lng="pt"><![CDATA[doença de Huntington]]></kwd>
<kwd lng="pt"><![CDATA[genótipo]]></kwd>
<kwd lng="pt"><![CDATA[CYP2D6]]></kwd>
<kwd lng="pt"><![CDATA[clozapina]]></kwd>
<kwd lng="pt"><![CDATA[tetrabenazina]]></kwd>
<kwd lng="pt"><![CDATA[farmacogenética]]></kwd>
<kwd lng="pt"><![CDATA[frequência alélica]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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