{"id":116125,"date":"2018-03-11T10:44:58","date_gmt":"2018-03-11T10:44:58","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-cla%c2%adnico-genetica-del-sa%c2%adndrome-de-bartter-tipo-iii-correlacion-fenotipo-genotipo\/"},"modified":"2018-03-11T10:44:58","modified_gmt":"2018-03-11T10:44:58","slug":"caracterizacion-cla%c2%adnico-genetica-del-sa%c2%adndrome-de-bartter-tipo-iii-correlacion-fenotipo-genotipo","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica\/caracterizacion-cla%c2%adnico-genetica-del-sa%c2%adndrome-de-bartter-tipo-iii-correlacion-fenotipo-genotipo\/","title":{"rendered":"Caracterizaci\u00f3n cl\u00ednico gen\u00e9tica del s\u00edndrome de bartter tipo iii: correlaci\u00f3n fenotipo-genotipo"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Alejandro Garcia Casta\u00f1o <\/strong><\/h2>\n<p>Existen un grupo de tubulopat\u00edas primarias de origen gen\u00e9tico y herencia autos\u00f3mica recesiva que est\u00e1n causadas por mutaciones de los genes que codifican los transportadores tubulares implicados en la reabsorci\u00f3n de nacl, y que se caracterizan por una p\u00e9rdida salina urinaria y una depleci\u00f3n de volumen corporal, cuyo prototipo es el denominado s\u00edndrome de bartter.Objetivos:el objetivo principal de esta tesis es caracterizar cl\u00ednica y gen\u00e9ticamente a los pacientes diagnosticados de s\u00edndrome de bartter tipo iii. Para lograr el objetivo principal nos hemos propuesto los siguientes objetivos concretos: implementar las t\u00e9cnicas de biolog\u00eda molecular que permitan caracterizar las variantes gen\u00e9ticas del gen clcnkb en la poblaci\u00f3n a estudio. Optimizar el diagn\u00f3stico gen\u00e9tico e identificar estrategias o algoritmos diagn\u00f3sticos. Analizar la relaci\u00f3n fenotipo-genotipo, en caso de identificar alguna variaci\u00f3n, facilitando el diagn\u00f3stico cl\u00ednico de presunci\u00f3n de s\u00edndrome de bartter y el diagn\u00f3stico diferencial.M\u00e9todos: an\u00e1lisis del gen clcnkb por pcr y secuenciaci\u00f3n y comprobaci\u00f3n de la presencia de deleciones por mlpa y qmpsf.Resultados: hemos confirmado el dioagn\u00f3stico en 30 de los pacientes cl\u00ednicamente diagnosticados de s\u00edndrome de bartter tipo iii.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n cl\u00ednico gen\u00e9tica del s\u00edndrome de bartter tipo iii: correlaci\u00f3n fenotipo-genotipo<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n cl\u00ednico gen\u00e9tica del s\u00edndrome de bartter tipo iii: correlaci\u00f3n fenotipo-genotipo <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Alejandro Garcia Casta\u00f1o <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/07\/2014<\/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>Luis Antonio Casta\u00f1o Gonz\u00e1lez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Carlos Vitoria cormenzana <\/li>\n<li>domingo Gonzalez-lamu\u00f1o leguina (vocal)<\/li>\n<li>Fernando Santos rodr\u00edguez (vocal)<\/li>\n<li>rosa Vargas poussou (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Alejandro Garcia Casta\u00f1o Existen un grupo de tubulopat\u00edas primarias de origen gen\u00e9tico y herencia autos\u00f3mica recesiva que [&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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