{"id":84075,"date":"2000-05-04T00:00:00","date_gmt":"2000-05-04T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-geneticos-en-la-enfermedad-de-von-willebrand-implicacion-del-gen-vwf\/"},"modified":"2000-05-04T00:00:00","modified_gmt":"2000-05-04T00:00:00","slug":"estudios-geneticos-en-la-enfermedad-de-von-willebrand-implicacion-del-gen-vwf","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudios-geneticos-en-la-enfermedad-de-von-willebrand-implicacion-del-gen-vwf\/","title":{"rendered":"Estudios gen\u00e9ticos en la enfermedad de von willebrand: implicaci\u00f3n del gen vwf"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Pilar Casa\u00f1a Gargallo <\/strong><\/h2>\n<p>La enfermedad de von willebrand(evw) es el trastorno hereditario de la coagulaci\u00f3n m\u00e1s comun en el hombre, debido a deficiencias cuantitativas y\/o cualitativas de una glicoprote\u00edna multim\u00e9rica, el factor von willebrand(fvw). teniendo en cuenta los procedentes existentes, se asumi\u00f3 como hip\u00f3tesis de trabajo que los estudios gen\u00e9ticos pod\u00edan contribuir a conseguir diagn\u00f3sticos m\u00e1s certeros, con la consiguiente repercusi\u00f3n en el consejo gen\u00e9tico y en el tratamiento. As\u00ed pues, se propusieron los siguientes objetivos: confirmar la implicaci\u00f3n del gen vwf en pacientes con sospecha cl\u00ednica de evw; valorar la aplicaci\u00f3n de estos estudios en el diagn\u00f3stico de portadores; y contribuir al conocimiento de las bases moleculares y de los mecanismos etiopatog\u00e9nicos de esta heterog\u00e9nea enfermedad.  los estudios gen\u00e9ticos han confirmado la implicaci\u00f3n del gen en la mayor parte de las familias estudiadas, demostrado por primera vez ligamiento significativo entre el gen vwf y la evw tipo 1. La detecci\u00f3n de 16 mutaciones diferentes, 9 de ellas no descritas previamente junto con los estudios indirectos, han constatado or\u00edgenes distintos e independientes de la evw en la mayor\u00eda de los casos; sin embargo, determinados defectos podr\u00edan ser muy antiguos y estar dispersos en la poblaci\u00f3n espa\u00f1ola. La mutaci\u00f3n g1629r es candidata a causar evw tipo 2a, debido a que probablemente confiere al fvw un aumento de susceptibilidad a las proteasas del plasma. Las mutaciones v1314d,r1341w y r1315c,a1437t que dan lugar tanto a ganancia como p\u00e9rdida de la funci\u00f3n de la prote\u00edna, reafirman la importancia del dominio a1 en la funci\u00f3n fisiol\u00f3gica del fvw. Se ha obtenido ligamiiento del tipo 1 con la mutaci\u00f3n t1156m que ejerce un posible efecto dominante negativo. La expresi\u00f3n diferencial de los alelos explicar\u00eda parte de la variabilidad fenot\u00edpica en una misma familia. No obstante, la simple ausencia de expresi\u00f3n de un alelo no es suficiente p<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudios gen\u00e9ticos en la enfermedad de von willebrand: implicaci\u00f3n del gen vwf<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudios gen\u00e9ticos en la enfermedad de von willebrand: implicaci\u00f3n del gen vwf <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Pilar Casa\u00f1a Gargallo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 05\/04\/2000<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Francisco Martinez Castellano<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: f\u00e9lix Prieto Garc\u00eda <\/li>\n<li>vicente Vicente garcia (vocal)<\/li>\n<li>Francisco Javier Batlle fontrodona (vocal)<\/li>\n<li>rosa De frutos ill\u00e1n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Pilar Casa\u00f1a Gargallo La enfermedad de von willebrand(evw) es el trastorno hereditario de la coagulaci\u00f3n m\u00e1s comun [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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