{"id":24065,"date":"2018-03-09T09:14:51","date_gmt":"2018-03-09T09:14:51","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/hipercolesterolemia-familiar-relacion-entre-genotipo-y-expresion-fenota%c2%adpica\/"},"modified":"2018-03-09T09:14:51","modified_gmt":"2018-03-09T09:14:51","slug":"hipercolesterolemia-familiar-relacion-entre-genotipo-y-expresion-fenota%c2%adpica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/zaragoza\/hipercolesterolemia-familiar-relacion-entre-genotipo-y-expresion-fenota%c2%adpica\/","title":{"rendered":"Hipercolesterolemia familiar: relaci\u00f3n entre genotipo y expresi\u00f3n fenot\u00edpica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Sergio Castillo Fern\u00e1ndez <\/strong><\/h2>\n<p>La hipercolesterolemia familiar (hf) es una enfermedad autos\u00f3mica dominante que se caracteriza por presentar una elevadas concentraciones de colesterol total y colesterol en ldl (cldl) en plasma. Est\u00e1 causada por mutaciones en el gen del receptor de las ldl (rldl) que codifica para una prote\u00edna de membrana de 839 amino\u00e1cidos que se encarga de la retirada plasm\u00e1tica de las lipoprote\u00ednas de baja densidad o ldl.  cl\u00ednicamente, se caracteriza por la presencia de una elevada incidencia de enfermedad cardiovascular prematura (ecvp) y la presencia de dep\u00f3sitos de colesterol en las articulaciones (xantomas) y en la c\u00f3rnea (arco corneal).  la hf es una de las enfermedades monog\u00e9nicas m\u00e1s frecuentes que se conoce y est\u00e1 asociada a una disminuci\u00f3n en la esperanza de vida, de donde radica su importancia socio-econ\u00f3mica. Se calcula que alrededor de 200.000 pacientes de hf fallecen al a\u00f1o en el mundo por causas cardiovasculares.  los objetivos del trabajo fueron la caracterizaci\u00f3n de los defectos en el gen del rldl de 146 sujetos con diagn\u00f3sticos cl\u00ednico de hf, la descripci\u00f3n de esta poblaci\u00f3n y de sus factores de riesgo; la determinaci\u00f3n de la presencia de la mutaci\u00f3n r3500q causante de apo b defectuosa familiar y \u00faltimo, la valoraci\u00f3n de la influencia del genotipo de apo e en este subgrupo estudiado.  para llevar a cabo estos objetivos se utilizaron t\u00e9cnicas de biolog\u00eda molecular, como son la pcr, sscp y la secuenciaci\u00f3n aut\u00f3matica.  se han detectado 52 mutaciones distinta en el gen del rldl; 16 de ellas que se describen por primera vez en este trabajo y otras 16 que no se hab\u00edan caracterizado hasta la fecha en la poblaci\u00f3n espa\u00f1ola. Este dato confirma la elevada heterogeneidad de las causas moleculares de hf en nuestro pa\u00eds.  el genotipo apo e no parece estar afectando mucho a la expresi\u00f3n fenot\u00edpica de la hf y la variante r3500q del gen de apo b asociada a bdf es rara en espa\u00f1a, aunque podr\u00eda ser causa frecue<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Hipercolesterolemia familiar: relaci\u00f3n entre genotipo y expresi\u00f3n fenot\u00edpica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Hipercolesterolemia familiar: relaci\u00f3n entre genotipo y expresi\u00f3n fenot\u00edpica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Sergio Castillo Fern\u00e1ndez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/06\/2003<\/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>Miguel Pocovi Mieras<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Francisco Perez jimenez <\/li>\n<li>josep Ribalta vives (vocal)<\/li>\n<li>Fernando Civeira murillo (vocal)<\/li>\n<li>pedro Mata lopez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Sergio Castillo Fern\u00e1ndez La hipercolesterolemia familiar (hf) es una enfermedad autos\u00f3mica dominante que se caracteriza por presentar [&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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