{"id":71786,"date":"2018-03-09T23:16:29","date_gmt":"2018-03-09T23:16:29","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-de-los-genes-prop1-pou1f1-gh1-rgh-y-sos-en-pacientes-con-talla-baja\/"},"modified":"2018-03-09T23:16:29","modified_gmt":"2018-03-09T23:16:29","slug":"analisis-de-los-genes-prop1-pou1f1-gh1-rgh-y-sos-en-pacientes-con-talla-baja","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/analisis-de-los-genes-prop1-pou1f1-gh1-rgh-y-sos-en-pacientes-con-talla-baja\/","title":{"rendered":"An\u00e1lisis de los genes prop1, pou1f1, gh1, rgh y sos en pacientes con talla baja"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Celsa Quinteiro Garc\u00eda <\/strong><\/h2>\n<p>La talla baja afecta al 2 \u00f3 3% de la poblaci\u00f3n general y en menos de un 1% se identifica la causa de la alteraci\u00f3n del crecimiento, su diagn\u00f3stico es taila baja idiop\u00e1tica (tbi) y muchos casos probablemente est\u00e1n provocados por defectos sutiles en elementos implicados en la respuesta a la gh. El estudio de la secuencia del adn ha aumentado el conocimiento de otras causas de hipocrecimiento como la dchh, el d\u00e9ficit aislado de gh, el s\u00edndrome de laron y el s\u00edndrome de insensibilidad parcial a la gh. Las bases moleculares de las alteraciones que iievan a la taila baja se han desarroilado por la localizaci\u00f3n y caracterizaci\u00f3n de los genes que codifican las prote\u00ednas implicadas en el crecimiento. Objetivos:  1.Estudiar en el grupo de deficiencia de gh asociada a deficiencia de otras hormonas hipofisarias los genes propi y pouifi, en el grupo de pacientes con deficiencia aislada de gh, el gen ghl yen los casos de insensibilidad a la gh, el gen rgh y en pacientes con discondrosteosis el gen shox.  2. En pacientes con tbi analizamos los genes ghi y rgh intentando aumentar el espectro mutacional del los genes ghi y rgh.  3.Estudiar la ftecuenciade los polimorfismos de estos genes, comparando distintos grupos diagn\u00f3sticos entre s\u00ed, y en algunos casos con poblaci\u00f3n control. Conclusiones:  l. La confirmaci\u00f3n de la base gen\u00e9tica de las alteraciones del crecimiento necesita la demostraci\u00f3n de las mutaciones en los genes implicados, por lo que hemos puesto a punto las t\u00e9cnicas de an\u00e1lisis molecular de los genes propl, pouifl, ghl, rgh y shox mediante la secuenciaci\u00f3n completa de los mismos.  2. Se encontraron en 14 pacientes (28% de los casos) con dchh, mutaciones en propl y en pouifl. Las mutaciones encontradas son las m\u00e1s frecuentes en todas las series publicadas.  3. En ghl hemos identificado 31 cambios nucleot\u00eddicos, de \u00e9stos 20 no han sido previamente descritos. En la secuencia codificante encontramos 9 mutaciones. e<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis de los genes prop1, pou1f1, gh1, rgh y sos en pacientes con talla baja<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis de los genes prop1, pou1f1, gh1, rgh y sos en pacientes con talla baja <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Celsa Quinteiro Garc\u00eda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/12\/2004<\/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>Manuel Arturo Pombo Arias<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: \u00e1ngel Carrecedo \u00e1lvarez <\/li>\n<li>Jes\u00fas Mar\u00eda Garagorri otero (vocal)<\/li>\n<li>ram\u00f3n Ca\u00f1ete estrada (vocal)<\/li>\n<li>pedro Martul tob\u00edo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Celsa Quinteiro Garc\u00eda La talla baja afecta al 2 \u00f3 3% de la poblaci\u00f3n general y en [&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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