{"id":146380,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-y-molecular-del-gen-de-la-fibrosis-quistica-cftr-identificacion-y-caracterizacion-de-mutaciones\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"analisis-genetico-y-molecular-del-gen-de-la-fibrosis-quistica-cftr-identificacion-y-caracterizacion-de-mutaciones","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-genetico-y-molecular-del-gen-de-la-fibrosis-quistica-cftr-identificacion-y-caracterizacion-de-mutaciones\/","title":{"rendered":"Analisis genetico y molecular del gen de la fibrosis quistica (cftr): identificacion y caracterizacion de mutaciones"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Chillon Rodriguez <\/strong><\/h2>\n<p>El objetivo de este trabajo ha sido la caracterizacion de las mutaciones responsables de la fibrosis quistica (fq) en la poblacion espa\u00f1ola, y la determinacion de la frecuencia, distribucion y fenotipo al que estan asociadas. Se han detectado, en el gen cftr (cystic fibrosis transmembrane conductance regulator), 53 mutaciones fq que permiten la caracterizacion del 82.5% de los cromosomas fq de la poblacion espa\u00f1ola, 15 de las cuales son nuevas mutaciones. Asimismo, se han detectado 8 nuevos polimorfismos intragenicos. Se ha determinado que la poblacion espa\u00f1ola tiene una elevada tasa de heterpgeneidad genetica (en relacion a otras poblaciones), y que esta es probablemente debida a los diferentes grupos etnicos que han habitado la peninsula iberica. Se ha observado que las mutaciones que afectan a aminoacidos de los dominios transmembrana de la proteina cftr estan mas frecuentemente asociadas a suficiencia pancreatica y a un fenotipo fq leve. Finalmente, se ha demostrado que el gen cftr no esta unicamente relacionado con la fq, si no tambien con la infertilidad del tipo agenesia bilateral congenita de los vasos deferentes (cbavd).<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis genetico y molecular del gen de la fibrosis quistica (cftr): identificacion y caracterizacion de mutaciones<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis genetico y molecular del gen de la fibrosis quistica (cftr): identificacion y caracterizacion de mutaciones <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Chillon Rodriguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1994<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Carlos Lopez Otin <\/li>\n<li>Daniel Grinberg Vaisman (vocal)<\/li>\n<li>Manuel Palac\u00edn Prieto (vocal)<\/li>\n<li>Virginia Nunes Mart\u00ednez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Chillon Rodriguez El objetivo de este trabajo ha sido la caracterizacion de las mutaciones responsables de [&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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