{"id":128521,"date":"1996-01-01T00:00:00","date_gmt":"1996-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-molecular-sobre-la-tromboastenia-de-glanzmann\/"},"modified":"1996-01-01T00:00:00","modified_gmt":"1996-01-01T00:00:00","slug":"estudio-genetico-molecular-sobre-la-tromboastenia-de-glanzmann","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/estudio-genetico-molecular-sobre-la-tromboastenia-de-glanzmann\/","title":{"rendered":"Estudio genetico-molecular sobre la tromboastenia de glanzmann."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Fernandez Pinel Marta M. <\/strong><\/h2>\n<p>La tromboastenia de glanzmann es una patolog\u00eda hemorragica con caracter autosomico recesivo, caracterizada por un fallo en la agregacion plaquetaria debido a un deficit en la expresion en superficie o en la funcion del receptor de fibrinogeno, heterodimero gpiibiiia (la integrina iib 3). Inserciones, delecciones o mutaciones puntuales en los genes que codifican estas proteinas parecen ser responsables de estas anomalias en la expresion del receptor.  a partir de muestras  de sangre periferica de una paciente de tromboastenia de glanzmann y sus familiares, se extrajo dna genomico, que fue empleado para el rastreo de los genes gpiib y gpiiia por analisis de polimorfismo conformacional de dna monocatenario (sscp), encontrandose un patron de movilidad de bandas alterado en un fragmento que comprendia los exones 5 a 7 de gpiib. Por secuenciacion se comprobo la presencia de una transversion c a en la posicion +2 del sitio de procesamiento del intron 5, responsable de una alteracion en dicho procesamiento, y que cosegregaba con el cuadro tromboastenico de la paciente. Este fallo originaba un desplazamiento de la fase de lectura y la aparicion de un codon de terminacion prematuro, dando lugar a la sintesis de una proteina truncada. Como se comprobo posteriormente por estudios de citometria de flujo e inmunoprecipitacion realizados sobre celulas de mamifero transfectadas establemente con los cdnas silvestre y mutante de gpiib, esta proteina truncada ejercia un efecto dominante negativo sobre la proteina silvestre, impidiendo su expresion a nivel de la dimerizacion de subunidades gpiib y gpiiia en el reticulo endoplasmico.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico-molecular sobre la tromboastenia de glanzmann.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico-molecular sobre la tromboastenia de glanzmann. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Fernandez Pinel Marta M. <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1996<\/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>Roberto Parrilla Sanchez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Francisco Montero Carnerero <\/li>\n<li>Carmelo Bernabeu Quirante (vocal)<\/li>\n<li> Esponda Fernandez Pedro Hernan (vocal)<\/li>\n<li>Victoria Alvarez M. (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Fernandez Pinel Marta M. La tromboastenia de glanzmann es una patolog\u00eda hemorragica con caracter autosomico recesivo, caracterizada [&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":[160,35,986,962,940,15231,17],"tags":[41650,14538,241771,4798,102933,241772],"class_list":["post-128521","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-ciencias-de-la-vida","category-complutense-de-madrid","category-genetica","category-genetica-bioquimica","category-genetica-molecular","category-quimica","tag-carmelo-bernabeu-quirante","tag-esponda-fernandez-pedro-hernan","tag-fernandez-pinel-marta-m","tag-francisco-montero-carnerero","tag-roberto-parrilla-sanchez","tag-victoria-alvarez-m"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/128521","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=128521"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/128521\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=128521"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=128521"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=128521"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}