<?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>2617-4731</journal-id>
<journal-title><![CDATA[Revista de la Sociedad Científica del Paraguay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Soc. cient. Parag.]]></abbrev-journal-title>
<issn>2617-4731</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Científica del Paraguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2617-47312024000200037</article-id>
<article-id pub-id-type="doi">10.32480/rscp.2024.29.2.3742</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Desarrollo de cebadores para amplificación de variantes patogénicas de genes brca1 y brca2 asociadas a cáncer de mama]]></article-title>
<article-title xml:lang="en"><![CDATA[Developing of primers for amplification of pathogenic variants associated with breast cancer]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González]]></surname>
<given-names><![CDATA[Mónica María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dressler]]></surname>
<given-names><![CDATA[Diana Paola]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Talavera]]></surname>
<given-names><![CDATA[Liliana Noelia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Itapúa Facultad de Medicina Laboratorio de Bioquímica y Microbiología]]></institution>
<addr-line><![CDATA[Encarnación ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Itapúa Facultad de Medicina Dirección de investigación]]></institution>
<addr-line><![CDATA[Encarnación ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional de Itapúa Facultad de Ciencias y Tecnologías Laboratorio de Biología Molecular]]></institution>
<addr-line><![CDATA[Encarnación ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>29</volume>
<numero>2</numero>
<fpage>37</fpage>
<lpage>42</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S2617-47312024000200037&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S2617-47312024000200037&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S2617-47312024000200037&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Entre el 5-10 % de los casos de cáncer de mama (CM) son atribuidos a mutaciones genéticas hereditarias. Los genes BCRA 1 y BCRA 2, presentan variantes asociadas a CM de alta prevalencia y penetrancia. La prevalencia de dichas variantes difiere de acuerdo con las poblaciones estudiadas dependiendo de factores como ser etnia y distribución geográfica. El objetivo del trabajo se basó en desarrollar ensayos para la amplificación de regiones que han sido reportadas como portadoras de variantes genéticas asociadas a CM en estudios regionales. Se realizaron selección de regiones blanco, diseño de cebadores a través de la herramienta Primer3, amplificación por PCR de las regiones a partir de ADN genómico extraído de sangre entera de un paciente voluntario al azar y chequeo de los fragmentos amplificados en geles de agarosa. Se diseñaron dos pares de cebadores para amplificar regiones que contienen tres variantes observadas en mujeres de ascendencia paraguaya y de otros países que puedan estar representados en la población itapuense: c.5351_5352insA; c.5681_5682insA y c.4035delA. Los resultados de la amplificación utilizando los cebadores diseñados dieron fragmentos de tamaños esperados. Los cebadores diseñados permitirán evaluar en mujeres itapuenses variantes asociadas a cáncer de mama hereditario encontradas en estudios latinoamericanos previos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Between 5-10% of cases of breast cancer (BC) are attributed to hereditary genetic mutations. The BCRA 1 and BCRA 2 genes present variants associated with BC with high prevalence and penetrance. The prevalence of these variants differs according to the populations studied, depending on factors such as ethnicity and geographic distribution. Objective: To develop assays for the amplification of regions that have been reported as carriers of genetic variants associated with breast cancer in regional studies. Target regions were selected, primers were designed using the Primer3 tool, PCR amplification of the regions was performed using genomic DNA extracted from a randomly chosen volunteer patient&#8217;s whole blood and the amplified fragments were checked on agarose gels. Two primers were designed to amplify regions containing three variants observed in Paraguayan descent women and other countries that may be represented in the Itapuense population: c.5351_5352insA; c.5681_5682insA and c.4035delA. The results of the PCR amplification using the designed primers gave fragments of the expected sizes. The primers designed in this study will allow the evaluation of three variants found in women of Paraguayan descent in Latin American studies.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[cáncer de mama]]></kwd>
<kwd lng="es"><![CDATA[gen BCRA1]]></kwd>
<kwd lng="es"><![CDATA[gen BRCA2]]></kwd>
<kwd lng="es"><![CDATA[cebadores, variantes genéticas.]]></kwd>
<kwd lng="en"><![CDATA[breast cancer]]></kwd>
<kwd lng="en"><![CDATA[gen BCRA1]]></kwd>
<kwd lng="en"><![CDATA[gen BCRCA2]]></kwd>
<kwd lng="en"><![CDATA[primers, genetic variants]]></kwd>
</kwd-group>
</article-meta>
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