{"id":13784,"date":"2018-03-09T09:00:12","date_gmt":"2018-03-09T09:00:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-de-los-genes-hla-en-la-diabetes-mellitus-tipo-1-estudio-familiar-en-poblacion-de-etnia-vasca\/"},"modified":"2018-03-09T09:00:12","modified_gmt":"2018-03-09T09:00:12","slug":"analisis-de-los-genes-hla-en-la-diabetes-mellitus-tipo-1-estudio-familiar-en-poblacion-de-etnia-vasca","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/analisis-de-los-genes-hla-en-la-diabetes-mellitus-tipo-1-estudio-familiar-en-poblacion-de-etnia-vasca\/","title":{"rendered":"Analisis de los genes hla en la diabetes mellitus tipo 1: estudio familiar en poblacion de etnia vasca"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Bego\u00f1a Calvo Martinez <\/strong><\/h2>\n<p>La diabetes tipo 1 es el resultado de la destrucci\u00f3n autoinmune de las c\u00e9lulas b pancre\u00e1ticas productoras de insulina. El bajo nivel de concordancia para la enfermedad entre gemelos id\u00e9nticos (30-50%) hace pensar en un componente ambiental pero siempre en un entorno de susceptibilidad gen\u00e9tica determinado. en este sentido, se conoce la existencia de asociaci\u00f3n entre la regi\u00f3n hla y la diabetes tipo 1 e incluso se considera que entre el 30 y el 60% del componentes gen\u00e9tico se debe a los genes de esa zona del cromosoma 6p21.3.  el objetivo principal de este trabajo ha sido la caracterizaci\u00f3n de la regi\u00f3n hla de clase ii(loci hla-drb1,hla-dqa1,hla-dqb1 y hla-dpb1) y de clase iii (loci del complemento bf, c2, c4a y c4b) en familias con diabetes tipo 1 de etnia vasca. Se pretend\u00eda, en primer lugar, establecer el perfil gen\u00e9tico de nuestra poblaci\u00f3n diab\u00e9tica y compararlo con el de otras poblaciones, dada la existencia de la gran heterogeneidad gen\u00e9tica del sistema hla asociado a enfermedad en los diferentes grupos poblacionales y en segundo lugar, identificar posibles marcadores de riesgo o protecci\u00f3n a diabetes tipo 1 que pudieran ser empleados en el an\u00e1lisis de futuros pacientes.  el an\u00e1lisis de haplotipos extendidos obtenidos por combinaci\u00f3n de todos los loci estudiados muestran dos haplotipos caracteristicos de nuestra poblacioni: el f1c30-drb1*0301-dqa1*0501-dqb1*0201-dpb1*0202 como marcador de riesgo y el sc31-drb1*1501-dqa1*0102-dqb1*0602-dpb1*0401, marcador de protecci\u00f3n y completamente ausente entre los enfermos, lo que hace pensar en una protecci\u00f3n dominante incluso en presencia de un haplotipo diabetog\u00e9nico. nuestro haplotipo de riesgo, es el mismo que caracteriza a la poblaci\u00f3n sarda, aunque el suyo no conserva el hla-dpb1*0202 mientras que el nuestro s\u00ed, a pesar del conocido \u00abhotspot\u00bb existente entre el hla-dqb1 y el hla-dpb1.  cuando se analiza el haplotipo de riesgo en detalle, con objeto de identificar<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis de los genes hla en la diabetes mellitus tipo 1: estudio familiar en poblacion de etnia vasca<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis de los genes hla en la diabetes mellitus tipo 1: estudio familiar en poblacion de etnia vasca <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Bego\u00f1a Calvo Martinez <\/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 14\/11\/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>Luis Antonio Casta\u00f1o Gonz\u00e1lez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan Rodriguez sorinao <\/li>\n<li> Luzuriaga tomas Mar\u00eda cristina (vocal)<\/li>\n<li> Vazquez garcia Jos\u00e9 Antonio (vocal)<\/li>\n<li>bernat Soria escoms (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Bego\u00f1a Calvo Martinez La diabetes tipo 1 es el resultado de la destrucci\u00f3n autoinmune de las c\u00e9lulas [&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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