{"id":89897,"date":"2018-03-10T00:15:09","date_gmt":"2018-03-10T00:15:09","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/fenilcetonuria-analisis-genetico-de-la-hiperfenilalaninemia-benigna-y-efecto-de-mutaciones-en-la-proteina-fenilalanina-hidroxilasa\/"},"modified":"2018-03-10T00:15:09","modified_gmt":"2018-03-10T00:15:09","slug":"fenilcetonuria-analisis-genetico-de-la-hiperfenilalaninemia-benigna-y-efecto-de-mutaciones-en-la-proteina-fenilalanina-hidroxilasa","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/fenilcetonuria-analisis-genetico-de-la-hiperfenilalaninemia-benigna-y-efecto-de-mutaciones-en-la-proteina-fenilalanina-hidroxilasa\/","title":{"rendered":"Fenilcetonuria: analisis genetico de la hiperfenilalaninemia benigna y efecto de mutaciones en la proteina fenilalanina hidroxilasa"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Alejandra Gamez Abascal <\/strong><\/h2>\n<p>La fenilcetonuria (pku) es una enfermedad gen\u00e9tica humana que se transmite con car\u00e1cter autosomico recesivo causada por una deficiencia en la enzima fenilalanina hidroxilasa hepatica (pah) que cataliza la hidroxilaci\u00f3n del amino\u00e1cido esencial fenilalanina a tirosina en presencia de tetrahidrobiopterina y ox\u00edgeno. La disfunci\u00f3n de esta enzima, limitante en el metabolismo de la fenilalanina, causa hiperfenilalanina. Las manifestaciones clinicas de la enfermedad han permitido establecer cuatro grupos fenotipicos en funcion de los niveles de fenilalanina en plasma en el momento del diagnostico y de la tolerancia a la fenilalanina de la dieta. Estos grupos son: pku severo, pku moderado, pku suave y hpa. La manifestaci\u00f3n clinica m\u00e1s suave de la enfermedad, denominada hiperfenilalaninemia suave o benigna (hpa), se caracteriza porque los pacientes no requieren tratamiento diet\u00e9tico aunque es necesario un correcto seguimiento cl\u00ednico en determinadas situaciones como el embarazo, con el fin de prevenir el s\u00edndrome de hiperfenilalaninemia materna que produce da\u00f1os irreversibles en el feto. El objetivo principal de este trabajo fue el de profundizar en la correlac\u00f3n genotipo-fenotipo en pku con objeto de ampliar el conocimiento de esta enfermedad genetica. para ello, se realizo por un lado la caracterizaci\u00f3n genotipica de pacientes con el fenotipo hpa mediante analisis molecular y por otro, se examin\u00f3 el efecto de determinadas mutaciones causantes de pku en la estructura y funci\u00f3n de la proteina pah. El estudio de las bases moleculares del fenotipo hpa en la poblaci\u00f3n espa\u00f1ola se llev\u00f3 a cabo mediante el empleo de la tecica de broad range dgge(electroforesis en geles con gradiente de desnaturalizacion) en combinacion con la tecnica de secundaci\u00f3n directa permitiendo determinar el genotipo del 92,5% de los alelos analizados. El analsis molecular de 93 pacientes hpa espa\u00f1oles nos permiti\u00f3 identificar 68 genotipos distintos causantes<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Fenilcetonuria: analisis genetico de la hiperfenilalaninemia benigna y efecto de mutaciones en la proteina fenilalanina hidroxilasa<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Fenilcetonuria: analisis genetico de la hiperfenilalaninemia benigna y efecto de mutaciones en la proteina fenilalanina hidroxilasa <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Alejandra Gamez Abascal <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/04\/2001<\/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>Belen Perez Gonzalez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jes\u00fas  (secretario) Vazquez cobos <\/li>\n<li>jorgina Satr\u00fastegui gil-delgado (vocal)<\/li>\n<li>Santiago Rodriguez de cordoba (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 Alejandra Gamez Abascal La fenilcetonuria (pku) es una enfermedad gen\u00e9tica humana que se transmite con car\u00e1cter autosomico [&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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