{"id":86122,"date":"2018-03-10T00:10:38","date_gmt":"2018-03-10T00:10:38","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-y-molecula-del-cromosoma-21-estudio-de-anomalias-cromosomicas\/"},"modified":"2018-03-10T00:10:38","modified_gmt":"2018-03-10T00:10:38","slug":"analisis-genetico-y-molecula-del-cromosoma-21-estudio-de-anomalias-cromosomicas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/analisis-genetico-y-molecula-del-cromosoma-21-estudio-de-anomalias-cromosomicas\/","title":{"rendered":"Analisis genetico y molecula del cromosoma 21. estudio de anomalias cromosomicas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Rebeca Valero Gils <\/strong><\/h2>\n<p>Los objetivos de esta tesis doctoral hacen referencia por un lado a la correlacion genotipo\/fenotipo dentro del sindrome de down y por el otro a la busqueda de genes de cromosoma 21.  correlacion genotipo\/fenotipo:  el an\u00e1lisis de dosis al\u00e9lica de marcadores polim\u00f3rficos ha permitido caracterizar, de forma precisa, las regiones cromos\u00f3micas implicadas en 5 trisom\u00edas y 3 monosomias parciales del cromosoma 21. Los resultados obtenidos ponen de manifiesto la variabilidad fenot\u00edpica de este sindrome. Individuos con regiones trisomicas peque\u00f1as presentan mas rasgos fenotipicos de individuos con regiones trisomicas mas extensas. Los resultados obtenidos han permitido relocalizar las regiones cromosomicas implicadas en los rasgos fenotipicos: fisuras palpebrales dirigidas hacia arriba y paladar arqueado. El primero entre d21s19947 y gata148f04 y el segundo, mas cerca de app que de sod1.  busqueda de genes en la regi\u00f3n 21q11.2  usp25 es un nuevo gen de la region 21q11.2. Est\u00e1 formado por 25 exones que se extienden a lo largo de 150 kb y que codifican para una proteina de 1087 amino\u00e1cidos. Usp25 presenta niveles bajos y ubicuos de expresion. la identificaci\u00f3n y caracterizacion del homologo murino (musp25) ha permitido realizar experimentos de hibridaci\u00f3n in situ que demuestran que el gen se expresa en las regiones proliferativas del cerebro fetal de rat\u00f3n y en los espermatocitos primarios y secundarios del test\u00edculo de rat\u00f3n. Existen, al menos, tres isoformas distintas de usp25 generadas por procesos de splicing alternativo. Una de estas isoformas es especifica de musculo y de corazon. usp25 es una proteina citoplasmatica de la familia de las ubps(proteasas especificas de ubiquitina) que podria estar implicada en la patogenesis del sindrome de down. La posterior identificacion y caracterizacion de usp28 sugiere que ambos genes, usp25 y usp28, formarian una nueva subfamilia de ubps generada, probablemente, por duplicacion genica d<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis genetico y molecula del cromosoma 21. estudio de anomalias cromosomicas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis genetico y molecula del cromosoma 21. estudio de anomalias cromosomicas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Rebeca Valero Gils <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/07\/2000<\/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>Roser Gonzalez Duarte<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Luis Cornudella mir <\/li>\n<li>neus Agell jane (vocal)<\/li>\n<li>lLuisa Vilageliu arqu\u00e9s (vocal)<\/li>\n<li>Francisco Palau Martinez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Rebeca Valero Gils Los objetivos de esta tesis doctoral hacen referencia por un lado a la correlacion [&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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