{"id":87370,"date":"2018-03-10T00:12:09","date_gmt":"2018-03-10T00:12:09","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisi-genetica-i-molecular-del-cromosoma-21-clonatge-de-gens-al-brac-llarg-del-cromosoma-21\/"},"modified":"2018-03-10T00:12:09","modified_gmt":"2018-03-10T00:12:09","slug":"analisi-genetica-i-molecular-del-cromosoma-21-clonatge-de-gens-al-brac-llarg-del-cromosoma-21","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/analisi-genetica-i-molecular-del-cromosoma-21-clonatge-de-gens-al-brac-llarg-del-cromosoma-21\/","title":{"rendered":"Analisi genetica i molecular del cromosoma 21 clonatge de gens al brac llarg del cromosoma 21"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M. Asuncion Solans Pujol <\/strong><\/h2>\n<p>El cromosoma 21 (hsa21) es el m\u00e1s peque\u00f1o de los cromosomas humanos y representa alrededor de un 1,2% del genoma humano. El hsa21 ha sido \u00e1mpliamente debido a su condici\u00f3n de cromosoma m\u00e1s peque\u00f1o y al hecho de que en su brazo largo se encuentran localizadas m\u00e1s de 20 enfermedades diferentes, como la homoscistinuria, dos formas de sordera cong\u00e9nita, una fomra de la enfermedad de alzheimer o la esclerosis lateral amiotr\u00f3fica, entre otras.Adem\u00e1s la trosom\u00eda del hsa21 es la aneuploid\u00eda m\u00e1s com\u00fan y da como resultado el s\u00edndrome de down (sd),la primera causa de retraso mental en reci\u00e9n nacidos.  el sd tiene una incidencia de uno cada setecientos nacimientos y se debe a la existencia de tres copias del hsa21. La mayor\u00eda de los casos (95%) est\u00e1n causados por una trisom\u00eda completa del hsa21, consecuencia de una no disyunci\u00f3n del hsa21 enla linea germinal de uno de los progenitores. el resto de los casos son consecuencia de translocaciones cromos\u00f3micas, incluyendo translocaciones robertsonianas i mosaicismo entre una trisom\u00eda completa y c\u00e9lulas euploides con trisom\u00edas parciales. En todos los casos, el resultado es una triple dosis del hsa21 o de parte del hsa21.  el sd se caracteriza por una serie de rasgos fenot\u00edpicos que afectan diferentes tejidos y \u00f3rganos, entre los cuales destaca el retraso mental,la hipoton\u00eda, la infertilidad en los hombres y una patolog\u00eda similar a la enfermedad de alzheimer que se dan con una incidencia del 100% de los casos. el resto de los rasgos fenotip\u00edcos tiene una incidencia variable.  el objetivo principal de este trabajo es contribuir a la construcci\u00f3n del mapa f\u00edsico y transcripcional del hsa21, adem\u00e1s de la identificaci\u00f3n de nuevos genes que se localicen en el brazo largo del hsa21 y que puedan estar relacionados con el fenotipo que caracteriza el sd.  para la construcci\u00f3n de un mapa f\u00edsico de alta resoluci\u00f3n se ha realizado la construci\u00f3n de mapas contiguos de c\u00f3smidos sol<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisi genetica i molecular del cromosoma 21 clonatge de gens al brac llarg del cromosoma 21<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisi genetica i molecular del cromosoma 21 clonatge de gens al brac llarg del cromosoma 21 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M. Asuncion Solans Pujol <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/11\/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>Susana De La Luna Gargantilla<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Valdivieso <\/li>\n<li>lauro Sumoy (vocal)<\/li>\n<li>daniel Grinberg vaisman (vocal)<\/li>\n<li>Luis P\u00e9rez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M. Asuncion Solans Pujol El cromosoma 21 (hsa21) es el m\u00e1s peque\u00f1o de los cromosomas humanos y [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,160,940,17],"tags":[42605,96796,159413,182904,182903,107248],"class_list":["post-87370","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-bioquimica","category-genetica-bioquimica","category-quimica","tag-daniel-grinberg-vaisman","tag-fernando-valdivieso","tag-lauro-sumoy","tag-luis-perez","tag-m-asuncion-solans-pujol","tag-susana-de-la-luna-gargantilla"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/87370","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=87370"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/87370\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=87370"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=87370"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=87370"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}