{"id":25434,"date":"2018-03-09T09:16:49","date_gmt":"2018-03-09T09:16:49","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracteritzacio-dels-gens-smn1-i-smn2-en-pacients-amb-atrofia-muscular-espinal-gens-hibrios-dosi-genica-i-mutacions-puntuals\/"},"modified":"2018-03-09T09:16:49","modified_gmt":"2018-03-09T09:16:49","slug":"caracteritzacio-dels-gens-smn1-i-smn2-en-pacients-amb-atrofia-muscular-espinal-gens-hibrios-dosi-genica-i-mutacions-puntuals","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/biologia-celular\/caracteritzacio-dels-gens-smn1-i-smn2-en-pacients-amb-atrofia-muscular-espinal-gens-hibrios-dosi-genica-i-mutacions-puntuals\/","title":{"rendered":"Caracteritzaci\u00f3 dels gens smn1 i smn2 en pacients amb atr\u00f3fia muscular espinal: gens hibrios, dosi g\u00e9nica i mutacions puntuals"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ivon Cusco Marti <\/strong><\/h2>\n<p>La atr\u00f3fia muscular espinal (ame) es una enfermedad neuromuscular con un patr\u00f3n de herencia antos\u00f3mica recesiva.  presenta una incidencia de 1\/6000-1\/10000 t y una frecuencia de portadores de 1\/34-1\/50. Esta enfermedad se clasifica en 4 fenotipos seg\u00fan la edad de aparici\u00f3n y evoluci\u00f3n de los sintomas. Se considera que el gen causante dela ame es el smn1 debido a que su p\u00e9rdida o alteraci\u00f3n se detecta en casi la totalidad de pacientes. Existe un gen homolog llamado smn2 que no es el responsable de la enfermedad, pero parece que act\u00faa sobre la expresi\u00f3n del fenotipo final.  en esta tesis se han estudiado la presencia y, frecuencia de genes h\u00edbridos smn1-smn2, y se han caracterizado distintas mutaciones puntuales, una de ellas (c.399-402 de agag) espec\u00edfica de la poblaci\u00f3n espa\u00f1ola, de origen com\u00fan y que representa la mutaci\u00f3n m\u00e1s frecuentemente descrita.  se han desarrollado tambi\u00e9n dos m\u00e9todos de an\u00e1lisis cualitativo de los genes smn1 y smn2 para poder determinar a los portadores de esta enfermedad, y caracterizan el efecto del gen smn2 sobre el fenotipo final.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracteritzaci\u00f3 dels gens smn1 i smn2 en pacients amb atr\u00f3fia muscular espinal: gens hibrios, dosi g\u00e9nica i mutacions puntuals<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracteritzaci\u00f3 dels gens smn1 i smn2 en pacients amb atr\u00f3fia muscular espinal: gens hibrios, dosi g\u00e9nica i mutacions puntuals <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ivon Cusco Marti <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/09\/2003<\/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>Eduardo Tizzano Ferrari<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jes\u00fas Pradas orozco <\/li>\n<li>victor Volpini bertr\u00e1n (vocal)<\/li>\n<li>daniel Grinberg vaisman (vocal)<\/li>\n<li> Galiano petit Mar\u00eda  pia (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ivon Cusco Marti La atr\u00f3fia muscular espinal (ame) es una enfermedad neuromuscular con un patr\u00f3n de herencia [&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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