{"id":38725,"date":"2018-03-09T09:38:27","date_gmt":"2018-03-09T09:38:27","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/correlacion-clinico-molecular-de-la-expansion-cag-del-gen-it15-en-la-enfermedad-de-huntington\/"},"modified":"2018-03-09T09:38:27","modified_gmt":"2018-03-09T09:38:27","slug":"correlacion-clinico-molecular-de-la-expansion-cag-del-gen-it15-en-la-enfermedad-de-huntington","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/correlacion-clinico-molecular-de-la-expansion-cag-del-gen-it15-en-la-enfermedad-de-huntington\/","title":{"rendered":"Correlaci\u00f3n clinico-molecular de la expansi\u00f3n cag del gen it15 en la enfermedad de huntington."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Aurora S\u00e1nchez D\u00edaz <\/strong><\/h2>\n<p>La enfermedad de huntington (eh) es un proceso neurodengerativo de presentaci\u00f3n tard\u00eda causado por la expansi\u00f3n del triplete cag en el gen it15. Se presentan los resultados del estudio del gen it15 en poblaci\u00f3n espa\u00f1ola con el fin de demostrar su utilidad diagn\u00f3stica, su ayuda en el conseje gen\u00e9tico, as\u00ed como establecer una correlaci\u00f3n cl\u00ednico-gen\u00e9tica de la eh en nuestra poblaci\u00f3n. Se ha estudiado el n\u00famero de repeticiones del triplete cag del gen it15 mediante pcr en 323 individuos de 200 familias espa\u00f1olas afectas de eh. El n\u00famero de repeticiones cag para el cromosoma eh fue de 34 a 85, mientras que para el cromosoma normal fue de 13 a 31 repeticiones. Se evidenci\u00f3 una relaci\u00f3n inversa entre el n\u00famero de repeticiones cag y la edad de presentaci\u00f3n de la enfermedad. Se pusieron de manifiesto los fen\u00f3menos de anticipaci\u00f3n e impirinting, con un incremento intergeracional en el n\u00famero de repeticiones cag y un descenso m\u00e1s acusado en la edad de presentaci\u00f3n cuando la enfermedad era transmitida por v\u00eda paterna. Por otro lado, se elabor\u00f3 un protocolo para la correcta aplicaci\u00f3n del diagn\u00f3stico presintom\u00e1tico.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Correlaci\u00f3n clinico-molecular de la expansi\u00f3n cag del gen it15 en la enfermedad de huntington.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Correlaci\u00f3n clinico-molecular de la expansi\u00f3n cag del gen it15 en la enfermedad de huntington. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Aurora S\u00e1nchez D\u00edaz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 23\/10\/1998<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Egozcue cuixart <\/li>\n<li>josep Mar\u00eda Grau junyent (vocal)<\/li>\n<li>victor Volpini bertr\u00e1n (vocal)<\/li>\n<li>concepci\u00f3n Lazaro Garc\u00eda (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Aurora S\u00e1nchez D\u00edaz La enfermedad de huntington (eh) es un proceso neurodengerativo de presentaci\u00f3n tard\u00eda causado 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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