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dc.contributor.advisorLaissue, Paul 
dc.creatorChaparro-Solano, HM 
dc.date.accessioned2019-02-20T15:18:25Z
dc.date.available2019-02-20T15:18:25Z
dc.date.created2019-02-07
dc.date.issued2019 
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19110
dc.descriptionA pesar de que la preeclampsia (PE) es una de las principales causas de morbimortalidad materna y fetal, su etiología es desconocida. Con el objetivo de determinar nuevos genes y mutaciones potencialmente etiológicos de la enfermedad, en el presente trabajo efectuamos la secuenciación simultánea de 386 genes, a partir de ADN placentario, en 60 mujeres afectadas por PE y restricción de crecimiento intrauterino (RCIU). Computacionalmente, utilizamos rigurosos filtros de selección de variantes. Identificamos 21 variantes (21 genes), entre las cuales 14 fueron confirmadas por medio de secuenciación de Sanger (AGT, ERAP1, F5, FOS, HTRA3, KDR, LIPC, MAN1C1, PDGFRA, SIAE, TET2, TGFB2, TGFB3, VCAN). Aquellos genes con variantes que participan en procesos biológicos como coagulación, modulación de la función inmunológica y angiogénesis llamaron especialmente la atención por su íntima relación con el desarrollo y función placentaria. Los resultados obtenidos son innovadores y sugieren una etiología poligénica de la PE. En el futuro, para una mejor comprensión de los resultados en el marco de la función placentaria, son imperativos estudios adicionales in vitro e in vivo.
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectPreeclampsia
dc.subjectMarcadores moleculares
dc.subject.ddcVarias ramas de la medicina, Cirugía  
dc.subject.lembPreeclampsia
dc.subject.lembToxemia
dc.subject.lembGenética humana
dc.titleAproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
dc.typemasterThesis
dc.publisherUniversidad del Rosario
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humana
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humana
dc.publisher.departmentEscuela de Medicina y Ciencias de la Salud
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaTesis de maestría
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
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