{"id":145233,"date":"1993-01-01T00:00:00","date_gmt":"1993-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-de-fibrosis-quistica-en-familias-espanolas\/"},"modified":"1993-01-01T00:00:00","modified_gmt":"1993-01-01T00:00:00","slug":"estudio-genetico-de-fibrosis-quistica-en-familias-espanolas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-genetico-de-fibrosis-quistica-en-familias-espanolas\/","title":{"rendered":"Estudio genetico de fibrosis quistica en familias espa\u00f1olas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Esther Fern\u00e1ndez Garc\u00eda <\/strong><\/h2>\n<p>Se realiza el estudio genetico de fibrosis quistica (fq) en familias espa\u00f1olas, mediante tecnicas de adn recombinante, con el objeto de llevar a cabo un diagnostico de portadores en la poblacion de riesgo y un diagnostico prenatal de la enfermedad. Con el panel de sondas utilizado (metd, meth, xv-2c, km19, mp6d-9, j3.11) el 90% de las familias resultaron informativas y en todas ellas fue posible el diagnostico de portadores con un 99% de fiabilidad y el diagnostico prenatal en todas las que los solicitaron.  el aislamiento y secuenciacion del gen de la fq (rtfq) abrio la posibilidad de su analisis directo, mostrando que el 54% de los cromosomas fq analizados presentaban la delecion  f508. Por otro lado, ha hecho posible la deteccion de portadores y diagnostico prenatal con un 100% de fiabilidad, en todas aquellas familias informativas para cualquiera de las mutaciones analizadas, modificando el riesgo tanto en los familiares como en sus conyuges y permitiendo ampliar el diagnostico prenatal a los parientes de primer y segundo grado.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico de fibrosis quistica en familias espa\u00f1olas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico de fibrosis quistica en familias espa\u00f1olas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Esther Fern\u00e1ndez Garc\u00eda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1993<\/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>Javier Ben\u00edtez Ortiz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Virginia (secretario) Nunes Mart\u00ednez <\/li>\n<li>Andr\u00e9s Sanchez Cascas (vocal)<\/li>\n<li> Garcia Novo M. Dolores (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Esther Fern\u00e1ndez Garc\u00eda Se realiza el estudio genetico de fibrosis quistica (fq) en familias espa\u00f1olas, mediante tecnicas [&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":[212,35,2820],"tags":[260163,99760,101039,7788,260162],"class_list":["post-145233","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-ciencias-de-la-vida","category-genetica-humana","tag-andres-sanchez-cascas","tag-esther-fernandez-garcia","tag-garcia-novo-m-dolores","tag-javier-benitez-ortiz","tag-virginia-secretario-nunes-Martinez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/145233","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=145233"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/145233\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=145233"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=145233"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=145233"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}