{"id":14112,"date":"2018-03-09T09:00:40","date_gmt":"2018-03-09T09:00:40","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-molecular-de-pacientes-espanoles-con-sospecha-de-neoplasia-endocrina-multiple-tipo-1\/"},"modified":"2018-03-09T09:00:40","modified_gmt":"2018-03-09T09:00:40","slug":"caracterizacion-molecular-de-pacientes-espanoles-con-sospecha-de-neoplasia-endocrina-multiple-tipo-1","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/caracterizacion-molecular-de-pacientes-espanoles-con-sospecha-de-neoplasia-endocrina-multiple-tipo-1\/","title":{"rendered":"Caracterizaci\u00f3n molecular de pacientes espa\u00f1oles con sospecha de neoplasia endocrina m\u00faltiple tipo 1"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ar\u00e1nzazu Cebri\u00e1n Aranda <\/strong><\/h2>\n<p>La neoplasia endocrina m\u00faltiple tipo 1 (nem) es una enfermedad que se caracteriza por la presencia combinada de diferentes tumores localizados, principalmente, en las gl\u00e1ndulas del paratiroides, tejido pancre\u00e1tico e hip\u00f3fisis. Es una enfermedad autos\u00f3mica dominante con penetrancia casi completa y expresividad variable. El gen responsable de esta enfermedad fue clonado en 1997, men1, es un gen supresor de tumores que contiene 10 exones y codifica para una prote\u00edna de 610 amino\u00e1cidos denominada menina, cuya funci\u00f3n hasta el momento es desconocida aunque se cree que est\u00e1 implicada en la regulaci\u00f3n del ciclo celular y en el mantenimiento de la integridad del genoma. Los objetivos de este trabajo fueron:  1,- llevar a cabo un an\u00e1lisis molecular completo del gen men1 para establecer la proporci\u00f3n de casos debidos a mutaciones en este gen en nuestra poblaci\u00f3n. caracterizar el tipo y distribuci\u00f3n de las mutaciones detectadas a intentar establecer una correlaci\u00f3n genotipo-fenotipo.  2,- realizar un estudio, mediante marcadores microsat\u00e9lites, de los tumores de estos pacientes para caracterizar el segundo mecanismo de inactivaci\u00f3n del gen men1.  3,- establecer un protocolo de trabajo a la hora de abordar este tipo de estudios en familias y casos espor\u00e1dicos candidatos.  para llevar a cabo estos objetivos se seleccionaron 24 casos espor\u00e1dicos y 21 casos familiares con sospecha de men 1. En primer lugar se puso a punto la t\u00e9cnica de csge para el an\u00e1lisis del gen men 1.  esta t\u00e9cnica ya hab\u00eda sido utilizada para el an\u00e1lisis de otros genes de gran tama\u00f1o y presentaba una sensibilidad cercana al 100% y sin falsos positivos. Para validar la t\u00e9cnica, todos los casos fueron confirmados por secuenciaci\u00f3n.  el 81% de los casos familiares presentaron mutaciones y todas, excepto una, generaban una prote\u00edna truncada, apoyando el papel de men 2 como gen supresor de tumores. El porcentaje de alteraciones localizadas en el ex\u00f3n<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n molecular de pacientes espa\u00f1oles con sospecha de neoplasia endocrina m\u00faltiple tipo 1<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n molecular de pacientes espa\u00f1oles con sospecha de neoplasia endocrina m\u00faltiple tipo 1 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ar\u00e1nzazu Cebri\u00e1n Aranda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 29\/11\/2001<\/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>Mercedes Robledo Batanero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Fernandez piqueras <\/li>\n<li> Cabranes d\u00edaz Jos\u00e9 Antonio (vocal)<\/li>\n<li>Carlos San roman cos gayon (vocal)<\/li>\n<li>Jes\u00fas Molano mateos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ar\u00e1nzazu Cebri\u00e1n Aranda La neoplasia endocrina m\u00faltiple tipo 1 (nem) es una enfermedad que se caracteriza por [&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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