{"id":20056,"date":"2018-03-09T09:09:15","date_gmt":"2018-03-09T09:09:15","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-geneticos-de-la-atrofa%c2%ada-muscular-espinal-analisis-mutacional-y-busqueda-de-factores-modulares-del-fenotipo\/"},"modified":"2018-03-09T09:09:15","modified_gmt":"2018-03-09T09:09:15","slug":"estudios-geneticos-de-la-atrofa%c2%ada-muscular-espinal-analisis-mutacional-y-busqueda-de-factores-modulares-del-fenotipo","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-geneticos-de-la-atrofa%c2%ada-muscular-espinal-analisis-mutacional-y-busqueda-de-factores-modulares-del-fenotipo\/","title":{"rendered":"Estudios gen\u00e9ticos de la atrof\u00edamuscular espinal: an\u00e1lisis mutacional y b\u00fasqueda de factores modulares del fenotipo"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Yolanda Martin Santo Domingo <\/strong><\/h2>\n<p>Las atrofias musculares espinales (ame) comprenden un grupo de trastornos hereditario caracterizados por la degeneraci\u00f3n de las motoneuronas del asta anterior de la m\u00e9dula espinal. La mayor\u00eda de los casos cursan con herencia autos\u00f3mica recesiva, aunque tambi\u00e9n se han descrito formas con herencia autos\u00f3mica dominante (menos del 10%). Las ame infantiles tienen una incidencia de 1 en 10.000 nacidos y una frecuencia de portador de 1 en 40. El fenotipo es extremadamente variable, y los pacientes se han clasificado en tres tipos (ame i-iii) seg\u00fan la edad de aparici\u00f3n y la gravedad de los s\u00edntomas. Los tres tipos de ame son causados por mutaciones en el gen smn1. existen dos genes smn, smn1 y smn2, pr\u00e1cticamente id\u00e9nticos, en la regi\u00f3n 5q13. La mayor\u00eda de los pacientes, -90%, presetan deleci\u00f3n en homocigosis del gen smn1. La identificaci\u00f3n de mutaciones intrag\u00e9nicas en algunos pacientes demostr\u00f3 que el gen smn1 era uno de los genes determinantes de la ame. el n\u00famero de copias de smn2 modula el fenotipo.  hemos estudiado la poblaci\u00f3n espa\u00f1ola ame, detectando deleci\u00f3n en homocigosis del gen smn1 en el 84,8% de los pacientes ame que cumplen todos los criterios diagn\u00f3sticos. En cuatro pacientes, que reten\u00edan una \u00fanica copia del gen smn1, hemos identificado cuatro mutaciones intrag\u00e9nicas, incluyendo dos nuevas mutaciones: 773 insc y c867+2t-g; y dos previamente descritas: 430del4 y 800ins11. Tres de estas mutaciones s\u00f3lo han sido descritas en la poblaci\u00f3n ame. En una paciente que reten\u00eda una sola copia de smn1 hemos demostrado que \u00e9ste no era funcional, la paciente no mostraba mensajero de smn1. El an\u00e1lisis de la regi\u00f3n promotora de los genes smn revel\u00f3 varias diferencias nucleot\u00eddicas, en particular un cambio en la longitud de un tramo de poliadeninas que eliminaba un posible sitio de uni\u00f3n del factor yy1.  hemos investigado la contribuci\u00f3n del gen smn2 en la modulaci\u00f3n del fenotipo. hemos determinado que, en pa<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudios gen\u00e9ticos de la atrof\u00edamuscular espinal: an\u00e1lisis mutacional y b\u00fasqueda de factores modulares del fenotipo<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudios gen\u00e9ticos de la atrof\u00edamuscular espinal: an\u00e1lisis mutacional y b\u00fasqueda de factores modulares del fenotipo <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Yolanda Martin Santo Domingo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/11\/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>Concepci\u00f3n Hern\u00e1ndez Chico<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Fernandez piqueras <\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<li>Rafael Garesse alarc\u00f3n (vocal)<\/li>\n<li>Juan  Jos\u00e9 Gonz\u00e1lez aguilera (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Yolanda Martin Santo Domingo Las atrofias musculares espinales (ame) comprenden un grupo de trastornos hereditario caracterizados por [&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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