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

dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacional
dc.contributor.advisorBermudez Santana, Clara Isabel
dc.contributor.advisorCabrera Pérez, Rodrígo
dc.contributor.authorAlape Ariza, Joseph
dc.date.accessioned2023-06-01T20:50:03Z
dc.date.available2023-06-01T20:50:03Z
dc.date.issued2023-05-31
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/83953
dc.descriptionilustraciones, gráficas, tablas
dc.description.abstractEl 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).
dc.description.abstractThe 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.
dc.format.extentxx, 175 páginas
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.publisherUniversidad Nacional de Colombia
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddc610 - Medicina y salud::614 - Medicina Forense; incidencia de lesiones, heridas, enfermedades; medicina preventiva pública
dc.subject.ddc570 - Biología::576 - Genética y evolución
dc.titleIdentificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
dc.typeTrabajo de grado - Doctorado
dc.type.driverinfo:eu-repo/semantics/doctoralThesis
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dc.publisher.programBogotá - Ciencias - Doctorado en Ciencias - Biología
dc.description.notesIncluye anexos
dc.contributor.researchgroupRnomica Teórica y Computacional
dc.description.degreelevelDoctorado
dc.description.degreenameDoctor en Ciencias - Biología
dc.identifier.instnameUniversidad Nacional de Colombia
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombia
dc.identifier.repourlhttps://repositorio.unal.edu.co/
dc.publisher.facultyFacultad de Ciencias
dc.publisher.placeBogotá, Colombia
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotá
dc.relation.indexedBireme
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.subject.decsSecuenciación del Exoma
dc.subject.decsExome Sequencing
dc.subject.decsCanalopatías/diagnóstico
dc.subject.decsChannelopathies/diagnosis
dc.subject.lembGenes
dc.subject.lembGenes
dc.subject.proposalMuerte Súbita
dc.subject.proposalCanalopatías cardiacas
dc.subject.proposalAnálisis exómico
dc.subject.proposalNGS
dc.subject.proposalVariantes
dc.subject.proposalSudden death
dc.subject.proposalCardiac channelopathies
dc.subject.proposalExomic analysis
dc.subject.proposalNGS
dc.subject.proposalVariants
dc.title.translatedIdentification of mutations in genes associated with hereditary channel diseases through exomic analysis
dc.type.coarhttp://purl.org/coar/resource_type/c_db06
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.redcolhttp://purl.org/redcol/resource_type/TD
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2
dcterms.audience.professionaldevelopmentEstudiantes
dcterms.audience.professionaldevelopmentInvestigadores
dcterms.audience.professionaldevelopmentMaestros
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