Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico

ilustraciones, gráficas, tablas

Autores:: Alape Ariza, Joseph

Tipo de recurso:: Doctoral thesis

Fecha de publicación:: 2023

Institución:: Universidad Nacional de Colombia

Repositorio:: Universidad Nacional de Colombia

Idioma:: spa

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repository_id_str
dc.title.spa.fl_str_mv	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
dc.title.translated.eng.fl_str_mv	Identification of mutations in genes associated with hereditary channel diseases through exomic analysis
title	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
spellingShingle	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico 610 - Medicina y salud::614 - Medicina Forense; incidencia de lesiones, heridas, enfermedades; medicina preventiva pública 570 - Biología::576 - Genética y evolución Secuenciación del Exoma Canalopatías/diagnóstico Exome Sequencing Channelopathies/diagnosis Genes Genes Muerte Súbita Canalopatías cardiacas Análisis exómico NGS Variantes Sudden death Cardiac channelopathies Exomic analysis NGS Variants
title_short	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
title_full	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
title_fullStr	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
title_full_unstemmed	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
title_sort	Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
dc.creator.fl_str_mv	Alape Ariza, Joseph
dc.contributor.advisor.spa.fl_str_mv	Bermudez Santana, Clara Isabel Cabrera Pérez, Rodrígo
dc.contributor.author.spa.fl_str_mv	Alape Ariza, Joseph
dc.contributor.researchgroup.spa.fl_str_mv	Rnomica Teórica y Computacional
dc.subject.ddc.spa.fl_str_mv	610 - Medicina y salud::614 - Medicina Forense; incidencia de lesiones, heridas, enfermedades; medicina preventiva pública 570 - Biología::576 - Genética y evolución
topic	610 - Medicina y salud::614 - Medicina Forense; incidencia de lesiones, heridas, enfermedades; medicina preventiva pública 570 - Biología::576 - Genética y evolución Secuenciación del Exoma Canalopatías/diagnóstico Exome Sequencing Channelopathies/diagnosis Genes Genes Muerte Súbita Canalopatías cardiacas Análisis exómico NGS Variantes Sudden death Cardiac channelopathies Exomic analysis NGS Variants
dc.subject.decs.spa.fl_str_mv	Secuenciación del Exoma Canalopatías/diagnóstico
dc.subject.decs.eng.fl_str_mv	Exome Sequencing Channelopathies/diagnosis
dc.subject.lemb.spa.fl_str_mv	Genes
dc.subject.lemb.eng.fl_str_mv	Genes
dc.subject.proposal.spa.fl_str_mv	Muerte Súbita Canalopatías cardiacas Análisis exómico NGS Variantes
dc.subject.proposal.eng.fl_str_mv	Sudden death Cardiac channelopathies Exomic analysis NGS Variants
description	ilustraciones, gráficas, tablas
publishDate	2023
dc.date.accessioned.none.fl_str_mv	2023-06-01T20:50:03Z
dc.date.available.none.fl_str_mv	2023-06-01T20:50:03Z
dc.date.issued.none.fl_str_mv	2023-05-31
dc.type.spa.fl_str_mv	Trabajo de grado - Doctorado
dc.type.driver.spa.fl_str_mv	info:eu-repo/semantics/doctoralThesis
dc.type.version.spa.fl_str_mv	info:eu-repo/semantics/acceptedVersion
dc.type.coar.spa.fl_str_mv	http://purl.org/coar/resource_type/c_db06
dc.type.content.spa.fl_str_mv	Text
dc.type.redcol.spa.fl_str_mv	http://purl.org/redcol/resource_type/TD
format	http://purl.org/coar/resource_type/c_db06
status_str	acceptedVersion
dc.identifier.uri.none.fl_str_mv	https://repositorio.unal.edu.co/handle/unal/83953
dc.identifier.instname.spa.fl_str_mv	Universidad Nacional de Colombia
dc.identifier.reponame.spa.fl_str_mv	Repositorio Institucional Universidad Nacional de Colombia
dc.identifier.repourl.spa.fl_str_mv	https://repositorio.unal.edu.co/
url	https://repositorio.unal.edu.co/handle/unal/83953 https://repositorio.unal.edu.co/
identifier_str_mv	Universidad Nacional de Colombia Repositorio Institucional Universidad Nacional de Colombia
dc.language.iso.spa.fl_str_mv	spa
language	spa
dc.relation.indexed.spa.fl_str_mv	Bireme
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spelling	Atribución-NoComercial-SinDerivadas 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Bermudez Santana, Clara Isabel255d3d337c24735b568fe1f8201cc30a600Cabrera Pérez, Rodrígof89e7d499460ca862eb90ef5f4350d26Alape Ariza, Josepha1ccfeb593b5a789a1b72b103a3ec4d3Rnomica Teórica y Computacional2023-06-01T20:50:03Z2023-06-01T20:50:03Z2023-05-31https://repositorio.unal.edu.co/handle/unal/83953Universidad Nacional de ColombiaRepositorio Institucional Universidad Nacional de Colombiahttps://repositorio.unal.edu.co/ilustraciones, gráficas, tablasEl estudio de muerte súbita cardiaca es muy importante, dada la alta incidencia a nivel mundial, y en los países industrializados se ha convertido un problema de salud pública. Sin embargo, el abordaje de este tipo de muerte no es fácil, debido al componente genético de predisposición y sobre todo en muertes causas por mutaciones en genes que codifican para proteínas que constituyen los canales iónicos (canalopatías). Con el descubrimiento en los últimos años de genes asociados a este tipo de muerte, se ha recomendado realizar estudios moleculares que permitan conocer cuáles son las bases moleculares y los factores de riesgo genético de la muerte súbita cardiaca, con fines de llegar a la medicina preventiva con un apropiado concejo genético. En Colombia el estudio de muerte súbita cardiaca se ha enfocado a los estudios convencionales de patología forense, sin embargo, en algunas muertes no es fácil diagnosticar la causa de muerte y permanecen en estudio. Lo anterior lleva a realizar un estudio molecular, para conocer los genes y mutaciones de estos genes que ayuden a explicar la causa probable de muerte súbita por canalopatías cardiacas. Se analizan mutaciones en los genes que codifican proteínas para canales iónicos cardíacos, mediante el análisis exómico utilizando la secuenciación de nueva generación (NGS). Así mismo se realiza un análisis de cambios estructurales en proteínas causadas por dichas mutaciones. Adicionalmente, se analiza cual es la incidencia de mutaciones de canales iónicos en una muestra de casos cuya muerte por patología está por determinar. (Texto tomado de la fuente).The study of sudden cardiac death is very important, given the high incidence worldwide, and in industrialized countries it has become a public health problem. However, the approach to this type of death is not easy, due to the genetic component of predisposition and especially in deaths caused by mutations in genes that code for proteins that constitute ion channels (channelopathies). With the discovery in recent years of genes associated with this type of death, it has been recommended to carry out molecular studies that allow us to know what are the molecular bases and genetic risk factors of sudden cardiac death, in order to arrive at preventive medicine with an appropriate genetic advice. In Colombia, the study of sudden cardiac death has focused on conventional studies of forensic pathology, however, in some deaths it is not easy to diagnose the cause of death and they remain under study. This leads to a molecular study, to know the genes and mutations of these genes that help explain the probable cause of sudden death due to cardiac channelopathies. Mutations in genes encoding proteins for cardiac ion channels are analyzed by exome analysis using next-generation sequencing (NGS). Likewise, an analysis of structural changes in proteins caused by these mutations is performed. Additionally, it analyzes the incidence of ion channel mutations in a sample of cases whose death by pathology is to be determined.Incluye anexosDoctoradoDoctor en Ciencias - Biologíaxx, 175 páginasapplication/pdfspaUniversidad Nacional de ColombiaBogotá - Ciencias - Doctorado en Ciencias - BiologíaFacultad de CienciasBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá610 - Medicina y salud::614 - Medicina Forense; incidencia de lesiones, heridas, enfermedades; medicina preventiva pública570 - Biología::576 - Genética y evoluciónSecuenciación del ExomaCanalopatías/diagnósticoExome SequencingChannelopathies/diagnosisGenesGenesMuerte SúbitaCanalopatías cardiacasAnálisis exómicoNGSVariantesSudden deathCardiac channelopathiesExomic analysisNGSVariantsIdentificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómicoIdentification of mutations in genes associated with hereditary channel diseases through exomic analysisTrabajo de grado - Doctoradoinfo:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/acceptedVersionhttp://purl.org/coar/resource_type/c_db06Texthttp://purl.org/redcol/resource_type/TDBiremeAksnes, H., Ree, R. y Arnesen, T. 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BMC Bioinformatics, 14(1). 1. http://doi.org/10.1186/1471-2105--14-90EstudiantesInvestigadoresMaestrosPúblico generalORIGINAL80435872.2023.pdf80435872.2023.pdfTesis de Doctorado en Ciencias - Biologíaapplication/pdf11815401https://repositorio.unal.edu.co/bitstream/unal/83953/2/80435872.2023.pdf3be3def13b29e6fd645b8c25a1784fb5MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-85879https://repositorio.unal.edu.co/bitstream/unal/83953/1/license.txteb34b1cf90b7e1103fc9dfd26be24b4aMD51THUMBNAIL80435872.2023.pdf.jpg80435872.2023.pdf.jpgGenerated Thumbnailimage/jpeg5077https://repositorio.unal.edu.co/bitstream/unal/83953/3/80435872.2023.pdf.jpg7a089a5f55fa8dc6ff0b6b21d9073293MD53unal/83953oai:repositorio.unal.edu.co:unal/839532024-08-09 23:20:56.625Repositorio Institucional Universidad Nacional de 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