{"id":35605,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/epidemiologia-y-genetica-molecular-del-sindrome-de-usher\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"epidemiologia-y-genetica-molecular-del-sindrome-de-usher","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/epidemiologia-y-genetica-molecular-del-sindrome-de-usher\/","title":{"rendered":"Epidemiolog\u00eda y genetica molecular del sindrome de usher."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Carmen Espinos Armero <\/strong><\/h2>\n<p>El s\u00edndrome de usher (ush) es una enfermedad autos\u00f3mica recesiva caracterizada por una sordera cong\u00e9nita neurosensorial asociada a retinosis pigmentaria.  atendiendo a la evoluci\u00f3n y gravedad de los s\u00edntomas, se divide en tres tipos cl\u00ednicos que a su vez, se subdividen en diferentes tipos gen\u00e9ticos. Hasta la fecha se conocen ocho loci y se presupone la existencia de al menos dos m\u00e1s. La presente tesis ha supuesto el estudio de 85 pacientes pertenecientes a 46 familias, vi\u00e9ndose que 43.5% son ush tipo i y 47.8% son ush tipo ii. El an\u00e1lisis de ligamiento ha confirmado la alta heterogeneidad de la patolog\u00eda, mostrando ligamiento al locus ush1b el 63% de las familias ush1, y al locus ush2a el 94.7% de las familias ush2. Adem\u00e1s, dos familias ush1 mostraron ligamiento al locus ush3.  los resultados obtenidos muestran que el gen ush1b se ubica entre los loci d11s527 y d11s911, y el gen ush2a entre d1s419 y afm144xf2. Finalmente, la b\u00fasqueda de mutaciones en el gen my07a responsable del fenotipo ush1b, condujo al hallazgo del cambio a1a397asp en los pacientes de una familia.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Epidemiolog\u00eda y genetica molecular del sindrome de usher.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Epidemiolog\u00eda y genetica molecular del sindrome de usher. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Carmen Espinos Armero <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/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>F\u00e9lix Prieto Garc\u00eda<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio Pell\u00edn P\u00e9rez <\/li>\n<li>Herminio Perez Garrigues (vocal)<\/li>\n<li>Mar\u00eda  Carmen Ayuso Garcia (vocal)<\/li>\n<li>Francisco Martinez Castellano (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Carmen Espinos Armero El s\u00edndrome de usher (ush) es una enfermedad autos\u00f3mica recesiva caracterizada por una sordera [&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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