{"id":28704,"date":"2018-03-09T09:21:31","date_gmt":"2018-03-09T09:21:31","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-del-sa%c2%adndrome-de-wiiliams-beuren-y-de-las-patologa%c2%adas-asociadas-al-gen-de-la-elastina\/"},"modified":"2018-03-09T09:21:31","modified_gmt":"2018-03-09T09:21:31","slug":"estudio-genetico-del-sa%c2%adndrome-de-wiiliams-beuren-y-de-las-patologa%c2%adas-asociadas-al-gen-de-la-elastina","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/estudio-genetico-del-sa%c2%adndrome-de-wiiliams-beuren-y-de-las-patologa%c2%adas-asociadas-al-gen-de-la-elastina\/","title":{"rendered":"Estudio gen\u00e9tico del s\u00edndrome de wiiliams-beuren y de las patolog\u00edas asociadas al gen de la elastina"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Laia Rodriguez-revenga Bodi <\/strong><\/h2>\n<p>El s\u00edndrome de williams (sw) es un trastorno del desarrollo caracterizado por rasgos faciales caracter\u00edsticos, retraso mental con un determinado y \u00fanico perfil cognitivo y de personalidad, hipercalcemia infantil y anomal\u00edas en el tejido conectivo que incluyen arteriopat\u00edas, las m\u00e1s caracter\u00edsticas es la estenosis supravalvular a\u00f3rtica (svas). Es por tanto, un desorden multsist\u00e9mico que se presenta con una incidencia de 1\/20.000 nacidos vivos y que es da con igual frecuencia entre hombres y mujeres. Aunque la mayor\u00eda de casos de 3w son espor\u00e1dicos se han documentado varias familias en las que el s\u00edndrome se presenta siguiendo un patr\u00f3n de herencia autos\u00f3mico dominante.  la alteraci\u00f3n molecular implicada en el sw es una deleci\u00f3n hemicigota de aproximadamente 1,5 mb en el cromosoma 7 que concretamente afecta la regi\u00f3n 7q11.23. Es por tanto, uno de los s\u00edndromes de genes contiguos ya que la deleci\u00f3n afecta a varios genes localizados en la regi\u00f3n implicada.  el mecanismo causal en el sw parecer ser la haploinsufiencia g\u00e9nica de algunos de los genes que se encuentran en la regi\u00f3n delecionada. De todas formas, tampoco se descartan otros mecanismos como:  1,- que la deleci\u00f3n ponga al descubrimiento una mutaci\u00f3n recesiva en el otro alelo del gen.  2,- que la deleci\u00f3n pueda afectar a genes sometidos a imprinting, es decir, que normalmente se expresan desde uno de los alelos dependiendo de su origen parental.  3,- que la deleci\u00f3n de alguno de estos genes afecte a la expresi\u00f3n de otros ubicados en otra zona del genoma.  hasta el momento, se han descrito 20 genes con locus en esta regi\u00f3n, uno de los cuales es el que codifica para la prote\u00edna de la elastina (eln). este es el \u00fanico gen con el que se ha podido establecer una correlaci\u00f3n genotipo-fenotipo, ya que alteraciones en sus secuencia dan las caracter\u00edsticas manifestaciones card\u00edacas y vasculares presentes en el sw.  mientras que el sw es el resultado de la<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico del s\u00edndrome de wiiliams-beuren y de las patolog\u00edas asociadas al gen de la elastina<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico del s\u00edndrome de wiiliams-beuren y de las patolog\u00edas asociadas al gen de la elastina <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Laia Rodriguez-revenga Bodi <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/02\/2004<\/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>Ana Carri\u00f3 Yba\u00f1ez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Jimenez gonzalez <\/li>\n<li>Antonio Mor sierra (vocal)<\/li>\n<li>judith Mallolas jimenez (vocal)<\/li>\n<li>anna Soler casas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Laia Rodriguez-revenga Bodi El s\u00edndrome de williams (sw) es un trastorno del desarrollo caracterizado por rasgos faciales [&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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