{"id":17686,"date":"2018-03-09T09:05:51","date_gmt":"2018-03-09T09:05:51","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-retinosis-pigmentaria-en-galicia\/"},"modified":"2018-03-09T09:05:51","modified_gmt":"2018-03-09T09:05:51","slug":"estudio-de-la-retinosis-pigmentaria-en-galicia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-de-la-retinosis-pigmentaria-en-galicia\/","title":{"rendered":"Estudio de la retinosis pigmentaria en galicia"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda De La Fuente Mart\u00ednez <\/strong><\/h2>\n<p>La retinosis pigmentaria constituye un grupo dentro de las degeneraciones herediatiras de la retina. Es una enfermedad muy heterog\u00e9nea cuyo estudio a nivel molecular est\u00e1 en cont\u00ednuo progreso.  se ha realizado el cuadro epidemiol\u00f3gico de la enfermedad en galicia, y se ha procedido al an\u00e1lisis exhaustivo por pcr y secuenciaci\u00f3n c\u00edclica de los genes y loci m\u00e1s importantes implicados (periferina\/rds, rom1, rp11, rp25 y pde 6beta), para determinar la importancia e implicaci\u00f3n de variaciones y mutaciones dentro de estos genes en el desarrollo de la patolog\u00eda.  tambi\u00e9n se ha realizado el an\u00e1lisis del gen chm en tres familias que presentaban coroideremia una enfermedad asociada con retinosis pigmentaria.  se ha determinado la presencia de la mutaci\u00f3n pro216ser, previamente descrita, en familias que presentan rpad. Esta mutaci\u00f3n no segrega con la enfermedad, con lo cual se pone en duda su implicaci\u00f3n en el desarrollo de la patolog\u00eda.  no se han encontrado mutaciones en el gen rom1 segregando con un patr\u00f3n de herencia monog\u00e9nica o dig\u00e9nica en familias que presentan rpad.  se ha determinado la asociaci\u00f3n de la enfermedad con el locus rp11 en 9 familias que presentan rpad, de las cuales tres exhiben un claro patr\u00f3n de expresividad bimodal. Se ha descartado en todas estas familias la implicaci\u00f3n de mutaciones en el gen prkcg en el desarrollo de la enfermedad.  el locus rp25 aparece asociado con rpar en un 7% del conjunto de familias que presentan rp recesiva o espor\u00e1dica en galicia, resultados que han sido extrapolados de un estudio realizado en 39 familias, donde se han encontrado 8 familias que aparecen ligadas al locus donde se sit\u00faa rp25.  el estudio del gen que codifica para la subunidad beta de la fosfodiesterasa ha tenido como resultado el hallazgo de polimorfismos frecuentes en la secuencia de este gen, ya descritos previamente, as\u00ed como se ha determinado la presencia de polimorfismos que no hab\u00edan sido descrit<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la retinosis pigmentaria en galicia<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la retinosis pigmentaria en galicia <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda De La Fuente Mart\u00ednez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/06\/2002<\/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>Manuel Sanchez Salorio<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Dominguez puente <\/li>\n<li>eugenia Armengod Mar\u00eda (vocal)<\/li>\n<li>Jos\u00e9 Luis Jimeno pastor (vocal)<\/li>\n<li>josefina M\u00e9ndez felpeto (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda De La Fuente Mart\u00ednez La retinosis pigmentaria constituye un grupo dentro de las degeneraciones herediatiras 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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