{"id":72851,"date":"2018-03-09T23:17:43","date_gmt":"2018-03-09T23:17:43","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-clinica-y-molecular-de-las-distrofias-perifericas-de-retina-ligadas-al-cromosoma-x-xlrp-y-chm\/"},"modified":"2018-03-09T23:17:43","modified_gmt":"2018-03-09T23:17:43","slug":"caracterizacion-clinica-y-molecular-de-las-distrofias-perifericas-de-retina-ligadas-al-cromosoma-x-xlrp-y-chm","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/caracterizacion-clinica-y-molecular-de-las-distrofias-perifericas-de-retina-ligadas-al-cromosoma-x-xlrp-y-chm\/","title":{"rendered":"Caracterizacion clinica y molecular de las distrofias perifericas de retina ligadas al cromosoma x (xlrp y chm)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Garcia Hoyos <\/strong><\/h2>\n<p>Introducci\u00f3n: esta tesis doctoral esta basada en el an\u00e1lis y caracterizaci\u00f3n de las distrofias perif\u00e9ricas de retina ligadas al cromosoma x. Las distrofias perif\u00e9ricas estan caracterizadas de forma general por la degeneracion funcional progresiva de los bastones lo cual conlleva a su muerte por apoptosis de forma primaria y de forma secundaria se pueden ver afectadas o no el resto de las c\u00e9lulas de la retina. En el cromosoma x han sido identificadas dos subtipos de  distrofias perif\u00e9ricas de retina: la retinosis pigmentaria ligada al cromosoma x (xlrp) y la coroideremia (chm). Ambos tipos de distrofias perif\u00e9ricas de retina comparten la mayoria de las caracteristicas cl\u00ednicas y la mayor diferencia entre ellas radica en el aspecto que presenta el fondo de ojo de los varones afectos sobretodo en los primeros estadios de la enfermedad. Asociados a la xlrp han sido identificados 5 loci (rp23, rp6, rp3, rp2 y rp24) pero tan solo han sido clonados dos genes rpgr en el locus rp3 y rp2 en el locus rp2. La chm por su parte esta tan solo asociada con mutaciones en el gen rep-1.  pacientes y m\u00e9todos: para la elaboraci\u00f3n de esta tesis doctoral han sido seleccionadas 35 familias cl\u00ednicamente diagnosticadas de xlrp y 16 familias diagnosticadas de chm. Ambos tipos de familias cumplian criterios de diagnostico tan cl\u00ednicos como gen\u00e9ticos y  de ellas fuer\u00f3n analizadas en este estudio 424 muestras de adn, 84 muestras de arn y 8 muestras de prote\u00ednas.  tanto en las familias con xlrp como con chm lo primero que se realizo fue un an\u00e1lisis de haplotipos. En las familias con xlrp con el fin de intentar discriminar a que locus estaba asociada la enfermedad y en las familias con chm con el fin de confirmar o refutar el diagnostico cl\u00ednico.  tras el analisis de haplotipos en las familias con xlrp analizamos los genes rpgr y rp2 y, en las familias con chm analizamos el gen rep-1 asi como la presencia o ausencia de la prote\u00edna rep-1 en los linfoc<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizacion clinica y molecular de las distrofias perifericas de retina ligadas al cromosoma x (xlrp y chm)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizacion clinica y molecular de las distrofias perifericas de retina ligadas al cromosoma x (xlrp y chm) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Garcia Hoyos <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 23\/02\/2005<\/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>Mar\u00eda  Carmen Ayuso Garcia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Jos\u00e9 Gonz\u00e1lez aguilera <\/li>\n<li>blanca Garcia sandobal (vocal)<\/li>\n<li>carmen Najera montes (vocal)<\/li>\n<li>antonia Mar\u00eda Fernandez peralta (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Garcia Hoyos Introducci\u00f3n: esta tesis doctoral esta basada en el an\u00e1lis y caracterizaci\u00f3n de las distrofias [&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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