{"id":83052,"date":"2018-03-10T00:07:07","date_gmt":"2018-03-10T00:07:07","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-molecular-en-el-retinoblastomadiagnostico-diferencial-del-retinoblastoma-hereditario-mecanismos-de-mutacion-en-el-gen-rb1\/"},"modified":"2018-03-10T00:07:07","modified_gmt":"2018-03-10T00:07:07","slug":"genetica-molecular-en-el-retinoblastomadiagnostico-diferencial-del-retinoblastoma-hereditario-mecanismos-de-mutacion-en-el-gen-rb1","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/genetica-molecular-en-el-retinoblastomadiagnostico-diferencial-del-retinoblastoma-hereditario-mecanismos-de-mutacion-en-el-gen-rb1\/","title":{"rendered":"\u00abgenetica molecular en el retinoblastoma:diagn\u00f3stico diferencial del retinoblastoma hereditario\/mecanismos de mutaci\u00f3n en el gen rb1\u00bb"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Emilia Mateu Brull <\/strong><\/h2>\n<p>Introduccion:el retinoblastoma es el tumor intraocular m\u00e1s frencuente en ni\u00f1os. El origen molecular del mismo son mutaciones en ambos alelos del gen rb1, localizado en el brazo largo del cromosoma 13 humano. La enfermedad se da con car\u00e1cter hereditario en el 40% de los casos y con car\u00e1cter no hereditario en el 60% restante de los pacientes como de sus hermanos y otros familiares, para un mejor pron\u00f3stico de la enfermedad y la realizaci\u00f3n de un consejo gen\u00e9tico adecuado.  objetivos:dado que en algunos casos no es posible la realizaci\u00f3n del diagn\u00f3stico diferencial entre retinoblastomas hereditarios y no hereditarios mediante estudios cl\u00ednicos, y la importancia de un diagn\u00f3stico temprano para la preservaci\u00f3n de la visi\u00f3n de los ojos afectados y la supervivencia del paciente, los objetivos de este trabajo fueron el desarrollo de un protocolo de estudio molecular en el retinoblastoma y la valoraci\u00f3n de su aplicabilidad en la pr\u00e1ctica cl\u00ednica.  resultados: en la serie de 69 familias analizadas 5 eran casos de retinoblastoma familiar, 14 presentaban un individuo afectado de retinoblastoma bilateral espor\u00e1dico, y 40 presentaban un individuo afectado de retino blastoma unilateral espor\u00e1dico. El an\u00e1lisis molecular en estos pacientes permiti\u00f3 detectar la mutaci\u00f3n responsable del tumos a nivel constitucional, y por tanto determinar el car\u00e1cter hereditario de la enfermedad en el 80% de los casos familiares, en el 57% de los casos bilaterales espor\u00e1dicos y en el 7,5% de los casos unilaterales espor\u00e1dicos. La detecci\u00f3n de las mutaciones unicamente en tejido tumoral permiti\u00f3 determinar el car\u00e1cter no hereditario del tumor en otros cuatro pacientes con retinoblastoma unilateral espor\u00e1dico. En los casos bilaterales espor\u00e1dicos(te\u00f3ricamente hereditarios) de los que se dispuso de muestra tumoral y no se detectaron mutaciones en el gen rb1, se determin\u00f3 tambi\u00e9n la no implicaci\u00f3n de p53 en el desarrollo tumoral. el an\u00e1lisis d<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00abgenetica molecular en el retinoblastoma:diagn\u00f3stico diferencial del retinoblastoma hereditario\/mecanismos de mutaci\u00f3n en el gen rb1\u00bb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00abgenetica molecular en el retinoblastoma:diagn\u00f3stico diferencial del retinoblastoma hereditario\/mecanismos de mutaci\u00f3n en el gen rb1\u00bb <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Emilia Mateu Brull <\/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 21\/01\/2000<\/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: Antonio Pell\u00edn p\u00e9rez <\/li>\n<li>inmaculada Serra estelles (vocal)<\/li>\n<li>Mar\u00eda  carmen Ayuso garcia (vocal)<\/li>\n<li>Mar\u00eda  dolores Molto ruiz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Emilia Mateu Brull Introduccion:el retinoblastoma es el tumor intraocular m\u00e1s frencuente en ni\u00f1os. El origen molecular del [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[35,962,15231],"tags":[26974,176206,11809,176207,61428,36624],"class_list":["post-83052","post","type-post","status-publish","format-standard","hentry","category-ciencias-de-la-vida","category-genetica","category-genetica-molecular","tag-antonio-pellin-perez","tag-emilia-mateu-brull","tag-felix-prieto-garcia","tag-inmaculada-serra-estelles","tag-maria-carmen-ayuso-garcia","tag-maria-dolores-molto-ruiz"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83052","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=83052"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83052\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=83052"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=83052"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=83052"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}