{"id":33293,"date":"2018-03-09T09:30:20","date_gmt":"2018-03-09T09:30:20","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-de-la-enfermedad-poliquistosis-renal-autosomica-dominante-de-tipo-ii\/"},"modified":"2018-03-09T09:30:20","modified_gmt":"2018-03-09T09:30:20","slug":"estudio-genetico-de-la-enfermedad-poliquistosis-renal-autosomica-dominante-de-tipo-ii","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-genetico-de-la-enfermedad-poliquistosis-renal-autosomica-dominante-de-tipo-ii\/","title":{"rendered":"Estudio genetico de la enfermedad poliquistosis renal autosomica dominante de tipo ii."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Antonio Viribay Lorite <\/strong><\/h2>\n<p>Nuestro trabajo se ha dirigido hacia la localizaci\u00f3n precisa del segundo locus causante de adpkd (pkd2). Hemos identificado tres nuevos microsat\u00e9lites polim\u00f3rficos y otro no, en el primer intervalo cr\u00edtico definido para pkd2 (entre los marcadores d4s231 y d4s414\/423).  gracias al an\u00e1lisis realizado con estos marcadores (y con otros caracterizados por otros autores), sobre diez familias pkd2 logramos reducir el intervalo cr\u00edtico de 7 a 3 cm y posteriormente en un estudio multic\u00e9ntrico europeo hasta 2.5 cm entre los marcadores afma059xc9 y d4s1563. A continuaci\u00f3n preparamos un continuo de yacs que cubre este intervalo y en \u00e9l localizamos el gen ptpn13.  una vez identificado el gen pkd2 por mochizuki y col.  (1996) en el intervalo candidato, procedimos a la b\u00fasqueda de mutaciones en su regi\u00f3n codificante, en trece familias del tipo pkd2. Encontramos la mutaci\u00f3n en doce de las trece familias. Estas consisten fundamentalmente en cambios de base puntuales que producen un cod\u00f3n \u00abstop\u00bb o provocan el cambio en la fase de lectura, adem\u00e1s de dos mutaciones complejas. Estos cambios se encuentran repartidos por todo el gen, este hecho y la falta de correlaci\u00f3n entre fenotipo y genotipo hacen dif\u00edcil un diagn\u00f3stico presintom\u00e1tico de la enfermedad basado en el an\u00e1lisis de mutaciones.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico de la enfermedad poliquistosis renal autosomica dominante de tipo ii.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico de la enfermedad poliquistosis renal autosomica dominante de tipo ii. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Antonio Viribay Lorite <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/11\/1997<\/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>Jos\u00e9 Luis San Millan Lopez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Fernandez piqueras <\/li>\n<li>Jos\u00e9 ramon Regueiro  gonzalez barros (vocal)<\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<li>Santiago Rodriguez de cordoba (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Antonio Viribay Lorite Nuestro trabajo se ha dirigido hacia la localizaci\u00f3n precisa del segundo locus causante [&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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