{"id":88295,"date":"2018-03-10T00:13:17","date_gmt":"2018-03-10T00:13:17","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-del-deficit-congenito-de-ornitina-transcarbamilasa\/"},"modified":"2018-03-10T00:13:17","modified_gmt":"2018-03-10T00:13:17","slug":"bases-moleculares-del-deficit-congenito-de-ornitina-transcarbamilasa","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/bases-moleculares-del-deficit-congenito-de-ornitina-transcarbamilasa\/","title":{"rendered":"Bases moleculares del deficit congenito de ornitina transcarbamilasa"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Climent Bolta M. Consuelo <\/strong><\/h2>\n<p>El deficit de ornitina transcarbamilasa esta ligado al cromosoma x y es el m\u00e1s frecuente de los deficits del ciclo de la urea. En esta tesis se identifican 32 mutaciones distintas en el gen de la ornitina transcarbamilasa,22 de nuevo descripci\u00f3n, en 35 familias de un total de 49 analizadas en la que uno de sus miembros habia sido diagn\u00f3sticado clinicamente de deficit de otc. Esencialmente cada familia present\u00f3 su propia mutaci\u00f3n lo que subraya el car\u00e1cter \u00abprivado\u00bb de las mutaciones en \u00e9ste d\u00e9ficit. Del estudio del impacto de las mutaciones de sigue que la mayor\u00eda producen una disminuci\u00f3n de la cantidad de prote\u00edna enzim\u00e1tica. En los casos en los que no se identific\u00f3 la mutaci\u00f3n mediante procedimientos estandar se realizaron analisis adicionales que incluyeron la herencia de los polimorfismos intrasg\u00e9nicos, de los que se describe uno informativo nuevo y se establecen 4 haplotipos; el analisis por pcr largo de todo el gen de la otc y la herencia de microsat\u00e9lites, con el que se identific\u00f3 una deleci\u00f3n de todo el gen. El estudio del valor del diagnostico mutacional comparado con criterios cl\u00ednicos y bioqu\u00edmicos subraya la alta sensibilidad del estudio gen\u00e9tico. De las mutaciones un es una deleci\u00f3n del gen, dos son microdeleciones, tres introducen codones de parada, cuatro causan errores de \u00absplicing\u00bb, una elimina el cod\u00f3n de inicio y otra el de t\u00e9rmino y 21 son de cambio de amino\u00e1cido. De algunas de estas mutaciones se han realizado estudios estructura-funci\u00f3n que demostraron la no interferencia de dos mutaciones con el procesamiento mitocondrial de la proteina y demostraron mediante expresi\u00f3n en e coli con estudio de la solubilidad y an\u00e1lisis de la actividad enzim\u00e1tica y par\u00e1metros cin\u00e9ticos que una de las mutaciones es un polimorfismo sin consecuencias cl\u00ednicas y las cinco restantes analizadas son mutaciones patog\u00e9nicas que en su caso impiden la expresi\u00f3n, y en el resto disminuyen la solubilidad de la prote<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases moleculares del deficit congenito de ornitina transcarbamilasa<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases moleculares del deficit congenito de ornitina transcarbamilasa <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Climent Bolta M. Consuelo <\/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 22\/12\/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>Vicente Rubio Zamora<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Santiago Grisolia <\/li>\n<li> Garcia mu\u00f1oz m. Jos\u00e9 (vocal)<\/li>\n<li>pablo Sanjurjo crespo (vocal)<\/li>\n<li>Francisco Palau Martinez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Climent Bolta M. Consuelo El deficit de ornitina transcarbamilasa esta ligado al cromosoma x y es el [&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":[212,160,35,2820,17,3665],"tags":[184327,12032,184328,11808,27108,11806],"class_list":["post-88295","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-bioquimica","category-ciencias-de-la-vida","category-genetica-humana","category-quimica","category-quimica-clinica","tag-climent-bolta-m-consuelo","tag-francisco-palau-Martinez","tag-garcia-munoz-m-jose","tag-pablo-sanjurjo-crespo","tag-santiago-grisolia","tag-vicente-rubio-zamora"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/88295","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=88295"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/88295\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=88295"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=88295"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=88295"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}