{"id":87056,"date":"2018-03-10T00:11:47","date_gmt":"2018-03-10T00:11:47","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-del-gen-hfe-en-pacientes-con-trastornos-del-metabolismo-del-hierro\/"},"modified":"2018-03-10T00:11:47","modified_gmt":"2018-03-10T00:11:47","slug":"analisis-molecular-del-gen-hfe-en-pacientes-con-trastornos-del-metabolismo-del-hierro","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-molecular-del-gen-hfe-en-pacientes-con-trastornos-del-metabolismo-del-hierro\/","title":{"rendered":"An\u00e1lisis molecular del gen hfe en pacientes con trastornos del metabolismo del hierro"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Belen Garc\u00eda Berrocal <\/strong><\/h2>\n<p>La hemocromatosis hereditaria es la anomal\u00eda hereditaria metab\u00f3lica m\u00e1s frecuente en el mundo occidental. Las manifestaciones cl\u00ednicas de la hemocromatosis hereditaria son consecuencia de la acumulaci\u00f3n de hierro en diferentes \u00f3rganos debido a un exceso de absorci\u00f3n a nivel intestinal por un mecanismo no bien conocido hasta el momento. En 1996 se caracteriz\u00f3 el gen hfe, responsable de la mayor\u00eda de los casos de esta enfermedad. dejando a parte mutaciones descritas en pacientes aislados, parece que principalmente los individuos homocigotos para las mutaciones c282y y h63d, o los individuos portadores heterocigotos para las dos mutaciones, tienen verdadero riesgo de desarrollar la enfermedad.  en nuestro trabajo hemos analizado el gen hfe en pacientes diagnosticados de hemocromatosis hereditaria o con signos bioqu\u00edmicos de alteraci\u00f3n del metabolismo f\u00e9rrico, con el fin de determinar la incidencia de las diferentes mutaciones ya conocidas en nuestra poblaci\u00f3n y caracterizar posibles nuevas mutaciones de este gen asociadas con esta enfermedad.  el estudio del gen hef se llev\u00f3 a cabo amplificando mediante pcr los diferentes exones del gen, realizando digestiones con enzimas de restricci\u00f3n, sscp y secuenciaci\u00f3n. Nosotros hemos estudiado 34 individuos con alteraciones del metabolismo f\u00e9rrico, y 42 familiares de estos pacientes; 14 de ellos eran portadores homocigotos para la mutaci\u00f3n c282y, 8 eran portadores homocigotos para la mutaci\u00f3n h63d, ninguno era portador heterocigoto para los dos mutaciones, aunque si lo eran algunos de los familiares. Los 12 pacientes restantes no pose\u00edan ninguna de las mutaciones conocidas por lo que llevamos a cabo el estudio completo de los seis exones del gen hfe y de los tres exones del gen que codifica  la b2-microblobulina, no encontrando ninguna alteraci\u00f3n que justificase la enfermedad. El gen hfe es altamente polimorfo. En nuestro trabajo contribuimos a la caracterizaci\u00f3n de esta variabil<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis molecular del gen hfe en pacientes con trastornos del metabolismo del hierro<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis molecular del gen hfe en pacientes con trastornos del metabolismo del hierro <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Belen Garc\u00eda Berrocal <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Salamanca<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/10\/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>Rogelio Gonzalez Sarmiento<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: angel Sanchez rodriguez <\/li>\n<li>Jes\u00fas Molano mateos (vocal)<\/li>\n<li>cristina Miner pino (vocal)<\/li>\n<li>concepci\u00f3n Gonz\u00e1lez rodr\u00edguez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Belen Garc\u00eda Berrocal La hemocromatosis hereditaria es la anomal\u00eda hereditaria metab\u00f3lica m\u00e1s frecuente en el mundo occidental. [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[36483,35,9386],"tags":[52094,182394,75168,50638,42409,26315],"class_list":["post-87056","post","type-post","status-publish","format-standard","hentry","category-biologia-molecular","category-ciencias-de-la-vida","category-salamanca","tag-angel-sanchez-rodriguez","tag-belen-garcia-berrocal","tag-concepcion-gonzalez-rodriguez","tag-cristina-miner-pino","tag-jesus-molano-mateos","tag-rogelio-gonzalez-sarmiento"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/87056","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=87056"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/87056\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=87056"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=87056"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=87056"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}