{"id":2839,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1994\/01\/01\/estudio-genetico-del-sindrome-del-cromosoma-x-fragil-y-otras-formas-de-retraso-mental-inespecifico-ligado-al-x\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"estudio-genetico-del-sindrome-del-cromosoma-x-fragil-y-otras-formas-de-retraso-mental-inespecifico-ligado-al-x","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-genetico-del-sindrome-del-cromosoma-x-fragil-y-otras-formas-de-retraso-mental-inespecifico-ligado-al-x\/","title":{"rendered":"Estudio genetico del sindrome del cromosoma x fragil y otras formas de retraso mental inespecifico ligado al x."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Francisco Martinez Castellano <\/strong><\/h2>\n<p>La mutacion responsable del sindrome del x fragil consiste en la expansion de una secuencia microsatelite (ccg)n por encima de 600 pb. La pauta de expansion intergeneracional explica todas las peculiaridades de la herencia de este sindrome.  el patron de inactivacion del cromosoma x carece de valor predictivo de la afectacion fenotipica en mujeres, asi como el tama\u00f1o de la expansion en su rango patogenico. La razon se deberia a que las celulas sanguineas estudiadas han sufrido una seleccion que favorece aquellas en las que el alelo normal se encuentra activo.  ademas, las expansiones grandes serian inestables principalmente durante la etapa de segmentacion del zigoto, y ligeramente superiores en los varones. Estas expansiones se originan de forma progresiva, unicamente a partir de alelos normales con mas de 36 ccg. Se han localizado dos genes responsables de retraso inespecifico en la region cromosomica xp22.2-p22.3, por lo que se deduce que el conjunto del retraso inespecifico ligado al cromosoma x es geneticamente muy heterogeneo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico del sindrome del cromosoma x fragil y otras formas de retraso mental inespecifico ligado al x.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico del sindrome del cromosoma x fragil y otras formas de retraso mental inespecifico ligado al x. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Francisco Martinez Castellano <\/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\/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>F\u00e9lix Prieto Garc\u00eda<\/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> Carrasco Juan  Jos\u00e9 Luis (vocal)<\/li>\n<li>Guillermo Glover Lopez (vocal)<\/li>\n<li>Francisco Palau Martinez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Francisco Martinez Castellano La mutacion responsable del sindrome del x fragil consiste en la expansion de una [&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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