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Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia

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dc.contributor.advisorLaissue, Paul
dc.creatorChaparro-Solano, HM
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humanaspa
dc.creator.degreetypeFull timespa
dc.date.accessioned2019-02-20T15:18:25Z
dc.date.available2019-02-20T15:18:25Z
dc.date.created2019-02-07
dc.date.issued2019
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.spa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.48713/10336_19110
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19110
dc.language.isospa
dc.publisherUniversidad del Rosariospa
dc.publisher.departmentEscuela de Medicina y Ciencias de la Saludspa
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humanaspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
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dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectPreeclampsiaspa
dc.subjectMarcadores molecularesspa
dc.subject.ddcVarias ramas de la medicina, Cirugía spa
dc.subject.lembPreeclampsiaspa
dc.subject.lembToxemiaspa
dc.subject.lembGenética humanaspa
dc.titleAproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsiaspa
dc.typemasterThesiseng
dc.type.documentTesisspa
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaTesis de maestríaspa
local.department.reportEscuela de Medicina y Ciencias de la Saludspa
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