{"id":76032,"date":"2018-03-09T23:21:23","date_gmt":"2018-03-09T23:21:23","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/implicacion-del-cromosoma-x-en-el-retraso-mental-hereditario-identificacion-y-caracterizacion-de-genes-candidatos\/"},"modified":"2018-03-09T23:21:23","modified_gmt":"2018-03-09T23:21:23","slug":"implicacion-del-cromosoma-x-en-el-retraso-mental-hereditario-identificacion-y-caracterizacion-de-genes-candidatos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/implicacion-del-cromosoma-x-en-el-retraso-mental-hereditario-identificacion-y-caracterizacion-de-genes-candidatos\/","title":{"rendered":"\u00abimplicaci\u00f3n del cromosoma x en el retraso mental hereditario: identificaci\u00f3n y caracterizaci\u00f3n de genes candidatos\u00bb"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Isabel Mart\u00ednez Garay <\/strong><\/h2>\n<p>El retraso mental constituye un problema social y sanitario que se agrava, en ambos sentidos, cuando se trata de una condici6n hereditaria. Diversos estudios se\u00f1alan desde hace a\u00f1os que, en concreto, el retraso mental ligado al cromosoma x es una de las principales causas de deficit psiquico leve y moderado, con una incidencia acumulada que se estima en 1 :300 a 1 :600 varones. En este trabajo se ha abordado el analisis de varias familias afectadas de retraso mentalligado al x, tanto de formas inespecificas como sindr6micas.  el analisis se ha centrado principalmente en dos regiones: xp22 en 10s casos inespecificos, y xq11.4 en los sindr\u00f3micos, aunque tambien se han analizado dos genes en xq24-q25. En xp22 y xp11.4 se han estudiado 13 genes respectivamente, habiend\u00f3se identificado en una de las familias un cambio en uno de ellos (fll14503), que no esta presente en secuencias de las bases de datos ni en individuos sanos. Su analisis ha permitido clasificar a la proteina que codifica como una nueva proteina asociada a microtubulos, pero su implicaci\u00f3 en el retraso mental a(m no ha sido probada. En el caso de la familia afectada por el sindrome de lenz, se ha identificado la mutaci6n responsable en el gen pqbp 1, situado en xp 11.23. De esta forma se amplian tanto la heterogeneidad alelica de este gen, responsable de otros s\u00edndromes y de retraso mental inespecifico, como la heterogeneidad genica del sindrome de lenz, por tratarse del tercer locus asociado a esta enfermedad. El analisis del caso esporadico de sindrome de coffin-lowry ha permitido identificar una inserci\u00f3n de un elemento line l 1 defectivo en el gen rps6ka3 como la causa molecular de la patolog\u00eda presentada por el paciente. La inserci\u00f3n se ha producido cerca del sitio dador del intr\u00f3n 3, provocando el skipping del ex\u00f3n 4, 10 que conlleva un desplazamiento de la pauta de lectura y la aparici\u00f3n de un cod\u00f3n de parada prematuro, obteniendose una proteina incompleta.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00abimplicaci\u00f3n del cromosoma x en el retraso mental hereditario: identificaci\u00f3n y caracterizaci\u00f3n de genes candidatos\u00bb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00abimplicaci\u00f3n del cromosoma x en el retraso mental hereditario: identificaci\u00f3n y caracterizaci\u00f3n de genes candidatos\u00bb <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Isabel Mart\u00ednez Garay <\/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 27\/07\/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>Kerstin Kustsche<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rosa De frutos ill\u00e1n <\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<li>roser Gonzalez duarte (vocal)<\/li>\n<li>carmen N\u00e1jera mortes (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Isabel Mart\u00ednez Garay El retraso mental constituye un problema social y sanitario que se agrava, en ambos [&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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