{"id":24147,"date":"2018-03-09T09:14:58","date_gmt":"2018-03-09T09:14:58","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-de-hipercolesterolemia-familiar-por-tecnicas-de-biologa%c2%ada-molecular\/"},"modified":"2018-03-09T09:14:58","modified_gmt":"2018-03-09T09:14:58","slug":"diagnostico-de-hipercolesterolemia-familiar-por-tecnicas-de-biologa%c2%ada-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/zaragoza\/diagnostico-de-hipercolesterolemia-familiar-por-tecnicas-de-biologa%c2%ada-molecular\/","title":{"rendered":"Diagn\u00f3stico de hipercolesterolemia familiar por t\u00e9cnicas de biolog\u00eda molecular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Gilberto Reyes Leal <\/strong><\/h2>\n<p>La hipercolesterolemia familiar (hf) es una enfermedad del metabolismo de las lipoprote\u00ednas plasm\u00e1ticas, con herencia autos\u00f3mica dominante, que se caracteriza por elevadas concentraciones de colesterol total (ct) y colesterol en lipoprote\u00ednas de baja densidad (cldl), presentaci\u00f3n de xantomas y enfermedad coronaria prematura. La hf es causada por mutaciones en dos genes, en el gen del receptor de las lipoprote\u00ednas de baja densidad (rldl), que resulta en la hf cl\u00e1sica con una frecuencia de 1:500 en su forma heterocigota y de 1:1.000.000 en su forma homocigota, se piensa que en espa\u00f1a existen de 80.000-100.000 personas afectas, y en el gen de la apolipoprote\u00edna b-100(apob-100) que es el \u00fanico ligando para el rldl responsable de la apob-100 defectuosa familiar (fdb), con una frecuencia similar a la hf cl\u00e1sica.  el diagn\u00f3stico de la hf generalmente se realiza en base a las caracter\u00edsticas cl\u00ednicas de la enfermedad, sin embargo, existen muchos otros factores como la dieta, obesidad y variaciones en otros loci como la apolipoprote\u00edna e (apoe) que pueden modificar la magnitud en la elevaci\u00f3n del perfil lip\u00eddico (fenotipo) y afectar el diagn\u00f3stico.  en este trabajo se analizan las mutaciones en el gen del rldl, la mutaci\u00f3n apob-3500 y los genotipos de apoe en 171 pacientes diagnosticados cl\u00ednicamente de hf.  el escrutinio de las mutaciones se realiz\u00f3 por t\u00e9cnicas de biolog\u00eda molecular, por amplificaci\u00f3n por la reacci\u00f3n en cadena de la polimerasa (pcr) de cada ex\u00f3n y promotor del rldl, posteriormente se analiz\u00f3 cada producto amplificado por la t\u00e9cnica de polimorfismos de conformaci\u00f3n de cadena sencilla (sscp), y aquellas muestras que presentaron un patr\u00f3n an\u00f3malo fueron secuenciados, directamente y las variaciones de las secuencias se comprobaron por an\u00e1lisis de restricci\u00f3n.  el estudio de la mutaci\u00f3n apob-3500 en el gen de apob y los genotipos de apoe se realizaron por un an\u00e1lisis de restricci\u00f3n.  de esta m<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico de hipercolesterolemia familiar por t\u00e9cnicas de biolog\u00eda molecular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico de hipercolesterolemia familiar por t\u00e9cnicas de biolog\u00eda molecular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Gilberto Reyes Leal <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/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: fernando Civeira murillo <\/li>\n<li>Antonio Mart\u00ednez mart\u00ednez (vocal)<\/li>\n<li>Juan  ignacio Perez calvo (vocal)<\/li>\n<li>rodrigo Alonso karlezi (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Gilberto Reyes Leal La hipercolesterolemia familiar (hf) es una enfermedad del metabolismo de las lipoprote\u00ednas plasm\u00e1ticas, con [&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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