{"id":72259,"date":"2018-03-09T23:17:02","date_gmt":"2018-03-09T23:17:02","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecualr-de-la-hemocromatosis-hereditaria-en-la-poblacion-espanola\/"},"modified":"2018-03-09T23:17:02","modified_gmt":"2018-03-09T23:17:02","slug":"estudio-molecualr-de-la-hemocromatosis-hereditaria-en-la-poblacion-espanola","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/medicina-preventiva\/estudio-molecualr-de-la-hemocromatosis-hereditaria-en-la-poblacion-espanola\/","title":{"rendered":"Estudio molecualr de la hemocromatosis hereditaria en la poblacion espa\u00f1ola"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M Isabel Vallcorba Gomez Del Valle <\/strong><\/h2>\n<p>El estudio se planteo tras la identificaci\u00f3n del primer gen relacionado con la hemocromatosis (gfe, feder 1996), con la hip\u00f3tesis de que un conocimiento de los mutaciones del gen en la poblaci\u00f3n espa\u00f1ola nos proporcionar\u00eda la herramienta necesaria para el diagnostico precoz y el tratamiento de enfermos y sus familiares. como objetivos se fijaron: 1.Caracterizar la poblaci\u00f3n espa\u00f1ola respecto a las mutaciones del gen hfe, incluyendo estudios de genotipos y frecuencias al\u00e9licas en los enfermos con hemocromatosis y otras patolog\u00edas asociadas a la sobrecarga de hierro; en sus familiares y en una poblaci\u00f3n control representativo de la poblaci\u00f3n espa\u00f1ola, as\u00ed como estudios de penetrancia de las mutaciones del gen en nuestro entorno.  2.Dise\u00f1ar una estrategia para el estudio de mutaciones en la poblaci\u00f3n espa\u00f1ola.   para la consecuci\u00f3n de los objetivos, se estudiaron las dos mutaciones principales del gen en un total de 2500 individuos: una poblaci\u00f3n control de 793 sujetos (1\/50.000 del censo de la poblaci\u00f3n espa\u00f1ola i.N.E 1999), 850 enfermos con hemocromatosis o sobrecarga de hierro y 857 familiares de los enfermos.  los resultados obtenidos indican una preValencia de las mutaciones del gen en nuestro entorno menor que en otras poblaciones europeas principalmente del norte. Confirman la asociaci\u00f3n del gen hfe con la hemocromatosis en nuestra poblaci\u00f3n; asocian las mutaciones del gen a otras  sobrecargas de hierro y demuestran una penetrancia muy alta de genotipo hemocigoto c282y en los familiares de los enfermos a diferencia de los descrito en otros estudios  de poblaci\u00f3n general. Estos resultados obligan al estudio de todos los enfermos con hemocromatosis u otras sobrecargas de hierro y de sus familiares, pero desaconsejan un rastreo de mutaciones en poblaci\u00f3n general.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecualr de la hemocromatosis hereditaria en la poblacion espa\u00f1ola<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecualr de la hemocromatosis hereditaria en la poblacion espa\u00f1ola <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M Isabel Vallcorba Gomez Del Valle <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Alcal\u00e1<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/01\/2005<\/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>Carlos San Roman Cos Gayon<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: julia Bujan varela <\/li>\n<li>angel Miguel Alonso sanchez (vocal)<\/li>\n<li>joaqu\u00edn Rueda puente (vocal)<\/li>\n<li>Carlos Mart\u00edn de argila de prados (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M Isabel Vallcorba Gomez Del Valle El estudio se planteo tras la identificaci\u00f3n del primer gen relacionado [&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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