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

A 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...

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Autor Principal: Chaparro-Solano, HM
Otros Autores: Laissue, Paul
Formato: Tesis de maestría (Master Thesis)
Lenguaje:Español (Spanish)
Publicado: Universidad del Rosario 2019
Materias:
Preeclampsia
Marcadores moleculares
Varias ramas de la medicina, Cirugía
Toxemia
Genética humana
Acceso en línea:http://repository.urosario.edu.co/handle/10336/19110
id ir-10336-19110
recordtype dspace
institution EdocUR - Universidad del Rosario
collection DSpace
language Español (Spanish)
topic Preeclampsia
Marcadores moleculares
Varias ramas de la medicina, Cirugía
Preeclampsia
Toxemia
Genética humana
spellingShingle Preeclampsia
Marcadores moleculares
Varias ramas de la medicina, Cirugía
Preeclampsia
Toxemia
Genética humana
Chaparro-Solano, HM
Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
description A 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.
author2 Laissue, Paul
author_facet Laissue, Paul
Chaparro-Solano, HM
format Tesis de maestría (Master Thesis)
author Chaparro-Solano, HM
author_sort Chaparro-Solano, HM
title Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
title_short Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
title_full Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
title_fullStr Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
title_full_unstemmed Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
title_sort aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
publisher Universidad del Rosario
publishDate 2019
url http://repository.urosario.edu.co/handle/10336/19110
_version_ 1645141658125205504
spelling ir-10336-191102019-09-19T12:37:54Z Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia Chaparro-Solano, HM Laissue, Paul Preeclampsia Marcadores moleculares Varias ramas de la medicina, Cirugía Preeclampsia Toxemia Genética humana A 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. 2019-02-07 2019-02-20T15:18:25Z info:eu-repo/semantics/masterThesis info:eu-repo/semantics/acceptedVersion http://repository.urosario.edu.co/handle/10336/19110 spa info:eu-repo/semantics/openAccess application/pdf Universidad del Rosario Maestría en Ciencias con Énfasis en Genética Humana Escuela de Medicina y Ciencias de la Salud instname:Universidad del Rosario reponame:Repositorio Institucional EdocUR American College of Obstetricians and Gynecologists (Ed.). (2013). Hypertension in pregnancy. 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