Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2

ilustraciones, diagramas

Autores:
Parada Ferro, Laura Katherine
Tipo de recurso:
Fecha de publicación:
2024
Institución:
Universidad Nacional de Colombia
Repositorio:
Universidad Nacional de Colombia
Idioma:
spa
OAI Identifier:
oai:repositorio.unal.edu.co:unal/86324
Acceso en línea:
https://repositorio.unal.edu.co/handle/unal/86324
https://repositorio.unal.edu.co/
Palabra clave:
570 - Biología::576 - Genética y evolución
610 - Medicina y salud::616 - Enfermedades
Enfermedad de von Willebrand Tipo 2
Exones/genética
von Willebrand Disease, Type 2
Exons/genetics
Enfermedad de Von Willebrand
Factor vWF
Exón 28
Colombia
Von Willebrand disease
VWF factor
Exon 28
Colombia
asociación genética
genetic association
Rights
openAccess
License
Atribución-NoComercial 4.0 Internacional
id UNACIONAL2_968888d490638b8e1cf719209c127e59
oai_identifier_str oai:repositorio.unal.edu.co:unal/86324
network_acronym_str UNACIONAL2
network_name_str Universidad Nacional de Colombia
repository_id_str
dc.title.spa.fl_str_mv Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
dc.title.translated.eng.fl_str_mv Characterization of variants in exon 28 of the VWF gene and their genotypephenotype correlation in a sample of patients with von Willebrand disease type 2.
title Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
spellingShingle Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
570 - Biología::576 - Genética y evolución
610 - Medicina y salud::616 - Enfermedades
Enfermedad de von Willebrand Tipo 2
Exones/genética
von Willebrand Disease, Type 2
Exons/genetics
Enfermedad de Von Willebrand
Factor vWF
Exón 28
Colombia
Von Willebrand disease
VWF factor
Exon 28
Colombia
asociación genética
genetic association
title_short Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
title_full Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
title_fullStr Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
title_full_unstemmed Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
title_sort Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
dc.creator.fl_str_mv Parada Ferro, Laura Katherine
dc.contributor.advisor.spa.fl_str_mv Yunis Londoño, Juan José
dc.contributor.author.spa.fl_str_mv Parada Ferro, Laura Katherine
dc.contributor.corporatename.spa.fl_str_mv Clínica Infantil Colsubsidio
Servicios Médicos Yunis Turbay y Cia SAS
dc.contributor.researchgroup.spa.fl_str_mv Patología Molecular
dc.subject.ddc.spa.fl_str_mv 570 - Biología::576 - Genética y evolución
610 - Medicina y salud::616 - Enfermedades
topic 570 - Biología::576 - Genética y evolución
610 - Medicina y salud::616 - Enfermedades
Enfermedad de von Willebrand Tipo 2
Exones/genética
von Willebrand Disease, Type 2
Exons/genetics
Enfermedad de Von Willebrand
Factor vWF
Exón 28
Colombia
Von Willebrand disease
VWF factor
Exon 28
Colombia
asociación genética
genetic association
dc.subject.decs.spa.fl_str_mv Enfermedad de von Willebrand Tipo 2
Exones/genética
dc.subject.decs.eng.fl_str_mv von Willebrand Disease, Type 2
Exons/genetics
dc.subject.proposal.spa.fl_str_mv Enfermedad de Von Willebrand
Factor vWF
Exón 28
Colombia
dc.subject.proposal.eng.fl_str_mv Von Willebrand disease
VWF factor
Exon 28
Colombia
dc.subject.wikidata.spa.fl_str_mv asociación genética
dc.subject.wikidata.eng.fl_str_mv genetic association
description ilustraciones, diagramas
publishDate 2024
dc.date.accessioned.none.fl_str_mv 2024-06-28T01:32:51Z
dc.date.available.none.fl_str_mv 2024-06-28T01:32:51Z
dc.date.issued.none.fl_str_mv 2024
dc.type.spa.fl_str_mv Trabajo de grado - Maestría
dc.type.driver.spa.fl_str_mv info:eu-repo/semantics/masterThesis
dc.type.version.spa.fl_str_mv info:eu-repo/semantics/acceptedVersion
dc.type.content.spa.fl_str_mv Text
dc.type.redcol.spa.fl_str_mv http://purl.org/redcol/resource_type/TM
status_str acceptedVersion
dc.identifier.uri.none.fl_str_mv https://repositorio.unal.edu.co/handle/unal/86324
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/86324
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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dc.format.extent.spa.fl_str_mv xviii, 61 páginas
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dc.publisher.faculty.spa.fl_str_mv Facultad de Medicina
dc.publisher.place.spa.fl_str_mv Bogotá, Colombia
dc.publisher.branch.spa.fl_str_mv Universidad Nacional de Colombia - Sede Bogotá
institution Universidad Nacional de Colombia
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spelling Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Yunis Londoño, Juan José900883724ed1be45c24ef9e18a9f99db600Parada Ferro, Laura Katherine89e51a1b5d1e45ef198f74df0cd2ba3eClínica Infantil ColsubsidioServicios Médicos Yunis Turbay y Cia SASPatología Molecular2024-06-28T01:32:51Z2024-06-28T01:32:51Z2024https://repositorio.unal.edu.co/handle/unal/86324Universidad Nacional de ColombiaRepositorio Institucional Universidad Nacional de Colombiahttps://repositorio.unal.edu.co/ilustraciones, diagramasEl diagnóstico de la Efermedad de Von Willebrad se basa en pruebas de laboratorio especializadas que dependen de condiciones preanalíticas como la toma de la muestra, transporte y almacenamiento de las mismas, analíticas como el tipo de test utilizado, procedimientos de laboratorio y manejo de las muestras y post-analíticas como la correcta emisión y correlación de los resultados de acuerdo al analito estudiado que pueden llevar a resultados no óptimos. Según las guías para el diagnóstico de la enfermedad de Von Willebrand propuestas por la AHS, ISTH, NHF, y WFH, en la discriminación de los tipos 2 A, 2B, 2M y 2 N, el análisis genético es la opción que brinda un apoyo al diagnóstico clínico y del laboratorio que permite un mejor abordaje terapéutico y la oportunidad de brindar la asesoría genética adecuada. El objetivo de este trabajo fue caracterizar las variantes en el exón 28 del gen VWF y realizar la correlación genotipo-fenotipo en una muestra de pacientes con Enfermedad de Von Willebrand (EvW) tipo 2 en una institución de la ciudad de Bogotá D.C., Colombia. Para esto se analizaron 20 muestras de pacientes previamente diagnosticados con Enfermedad de Von Willebrand tipo 2, 17 de ellos no relacionados, que asisten al programa de Hemofilia de la Clínica Infantil Colsubsidio. Se realizó análisis del Exón 28 del gen VWF, mediante amplificación por PCR y secuenciación Sanger con el Kit Big Dye Terminator V3.1 en un analizador genético ABI 3500. Se identificó la variante patogénica en 15 de los 17 (88.2%) pacientes no relacionados analizados. En total, se identificaron 9 variantes patogénicas en la cohorte de pacientes analizados. La variante p.Gly1609Arg fue identificada en el 52.9% de los pacientes analizados (n=9) sola o en combinación, seguido en frecuencia por p.Ile1425Phe (n=3), y p.Ala1437Thr (n=3) sola o en combinación, 1 paciente con p.Arg1597Trp y otro con p.Arg1334Trp. Adicionalmente, en el 31.6% (n=6) de los pacientes se identificaron dos variantes patogénicas (2 pacientes conp.Gly1609Arg/p.Ala1437Thr; 1 paciente p.Gly1609Arg/p.Ser1506Leu; 1 paciente p.Gly1609Arg/p.Arg1597Trp; 1 paciente p.Gly1609Arg/p.Val1279Phe; y 1 paciente p.Ile1628Thr/p.Ser1325Phe). No se identificó variante en 2 pacientes (11.8%). Se pudo reclasificar el subtipo EvW tipo 2 en el 40% (n=8) de pacientes. En el 15% (n=3) no tenían estudios de laboratorio como el análisis de multímeros para su correcta correlación. Este es el primer estudio realizado en el país, el cual permitió identificar la causa genética de EvW por primera vez en Colombia mediante la secuenciación de exones específicos en una cohorte de seguimiento, realizar una correlación genotipo-fenotipo y brindar asesoramiento genético a los pacientes y sus familias. (Texto tomado de la fuente).The diagnosis of Von Willebrad disease is based on specialized laboratory tests that depend on pre-analytical conditions such as sample collection, transport and storage, analytical conditions such as the type of test used, laboratory procedures and sample handling, and post-analytical conditions such as the correct emission and correlation of the results according to the analyte studied, which can lead to suboptimal results. According to the guidelines for the diagnosis of von Willebrand disease proposed by the AHS, ISTH, NHF, and WFH, in the discrimination of types 2A, 2B, 2M and 2N, genetic analysis is the option that provides support to clinical and laboratory diagnosis that allows a better therapeutic approach and the opportunity to provide appropriate genetic counseling. The aim of this work was to characterize the variants in exon 28 of the VWF gene and to perform the genotype-phenotype correlation in a sample of patients with Von Willebrand Disease (VWD) type 2 in an institution in the city of Bogotá D.C., Colombia. For this purpose, 20 samples of patients previously diagnosed with Von Willebrand Disease type 2, 17 of them unrelated, attending the Hemophilia program of the Colsubsidio Children's Clinic were analyzed. Analysis of Exon 28 of the VWF gene was performed by PCR amplification and Sanger sequencing with the Big Dye Terminator V3.1 kit in an ABI 3500 genetic analyzer. The pathogenic variant was identified in 15 of the 17 (88.2%) unrelated patients analyzed. In total, 9 pathogenic variants were identified in the cohort of patients analyzed. The p.Gly1609Arg variant was identified in 52.9% of the patients analyzed (n=9) alone or in combination, followed in frequency by p.Ile1425Phe (n=3), and p.Ala1437Thr (n=3) alone or in combination, 1 patient with p.Arg1597Trp and another with p.Arg1334Trp. Additionally, two pathogenic variants were identified in 31.6% (n=6) of patients (2 patients with p.Gly1609Arg/p.Ala1437Thr; 1 patient p.Gly1609Arg/p.Ser1506Leu; 1 patient p.Gly1609Arg/p.Arg1597Trp; 1 patient p.Gly1609Arg/p.Val1279Phe; and 1 patient p.Ile1628Thr/p.Ser1325Phe). No variant was identified in 2 patients (11.8%). It was possible to reclassify the EvW type 2 subtype in 40% (n=8) of patients. In 15% (n=3) they did not have laboratory studies such as multimer analysis for correct correlation. This is the first study performed in the country, which made it possible to identify the genetic cause of EvW for the first time in Colombia by sequencing specific exons in a follow-up cohort, to perform a genotype-phenotype correlation and to provide genetic counseling to patients and their families.Este proyecto es una Colaboración entre la Clínica Infantil Colsubsidio, Universidad Nacional (Maestría en genética Humana) y Servicios Médicos Yunis Turbay y Cia SASMaestríaMagíster en Genética HumanaAlteraciones moleculares en trombofilias y hemofiliasxviii, 61 páginasapplication/pdfspaUniversidad Nacional de ColombiaBogotá - Medicina - Maestría en Genética HumanaFacultad de MedicinaBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá570 - Biología::576 - Genética y evolución610 - Medicina y salud::616 - EnfermedadesEnfermedad de von Willebrand Tipo 2Exones/genéticavon Willebrand Disease, Type 2Exons/geneticsEnfermedad de Von WillebrandFactor vWFExón 28ColombiaVon Willebrand diseaseVWF factorExon 28Colombiaasociación genéticagenetic associationCaracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2Characterization of variants in exon 28 of the VWF gene and their genotypephenotype correlation in a sample of patients with von Willebrand disease type 2.Trabajo de grado - Maestríainfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/acceptedVersionTexthttp://purl.org/redcol/resource_type/TMBiremeArbelaez, A., Niemann, J., Freney, R., Othman, M., Emsley, J., Mohammed, S., & Favaloro, E. 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Blood, 120(2), 449–458. https://doi.org/10.1182/blood-2012-01-405134EstudiantesInvestigadoresPúblico generalLICENSElicense.txtlicense.txttext/plain; charset=utf-85879https://repositorio.unal.edu.co/bitstream/unal/86324/1/license.txteb34b1cf90b7e1103fc9dfd26be24b4aMD51ORIGINALLauraK.ParadaFerro.2024.pdfLauraK.ParadaFerro.2024.pdfTesis de Maestría en Genética Humanaapplication/pdf2579052https://repositorio.unal.edu.co/bitstream/unal/86324/2/LauraK.ParadaFerro.2024.pdf7655bf485fb1b938db465e6e0bb1f2f3MD52THUMBNAILLauraK.ParadaFerro.2024.pdf.jpgLauraK.ParadaFerro.2024.pdf.jpgGenerated Thumbnailimage/jpeg4814https://repositorio.unal.edu.co/bitstream/unal/86324/3/LauraK.ParadaFerro.2024.pdf.jpgad0fc6799253e6e009f292304a6f1514MD53unal/86324oai:repositorio.unal.edu.co:unal/863242024-08-25 23:12:05.794Repositorio Institucional Universidad Nacional de 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