{"id":88383,"date":"2001-12-01T00:00:00","date_gmt":"2001-12-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-de-las-distrofias-de-cinturas-recesivas-en-espana\/"},"modified":"2001-12-01T00:00:00","modified_gmt":"2001-12-01T00:00:00","slug":"estudio-genetico-de-las-distrofias-de-cinturas-recesivas-en-espana","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-genetico-de-las-distrofias-de-cinturas-recesivas-en-espana\/","title":{"rendered":"Estudio gen\u00e9tico de las distrofias de cinturas recesivas en espa\u00f1a"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Diego Bogu\u00f1\u00e1 Carles De <\/strong><\/h2>\n<p>Las distrofias de cinturas recesivas (lgmd2) son enfermedades gen\u00e9ticas que afectan a la musculatura proximal de la cintura p\u00e9lvica y de la cintura escapular. Actualmente, existen 9 formas diferentes de lgmd2 de las que en esta tesis se han estudiado 5: lgmd2a, 2c 2d, 2e y 2f.  de 113 familias iniciales se han identificado las mutaciones responsables en 57 de ellas, de las que 17 familias pertenec\u00edan al tipo 2a, 24 familias al tipo 2c, 11 familias al tipo 2d, 4 familias al tipo 2e y una al tipo 2f.  se han identificado 25 mutaciones y 15 polimorfismos diferentes a lo largo de los 5 genes estudiados.  la mutaci\u00f3n c283y en el ex\u00f3n 8 del gen gamma-sg es exclusiva de la etnia gitana. La mutaci\u00f3n 521delt en el ex\u00f3n 6 del gen gamma-sg presenta un efecto fundador en el \u00e1rea geogr\u00e1fica del mediterr\u00e1neo. La mutaci\u00f3n 236ag-&gt;tcatct en el gen capn3 presenta un efecto fundador en el pa\u00eds vasco.  las familias en las que se han identificado estas mutaciones presentan un fenotipo bastante homog\u00e9neo, mientras que en el resto de familias el fenotipo era muy variable<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico de las distrofias de cinturas recesivas en espa\u00f1a<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico de las distrofias de cinturas recesivas en espa\u00f1a <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Diego Bogu\u00f1\u00e1 Carles De <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/01\/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>Pia Gallano Petit<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: josep M\u00aa Grau veciana <\/li>\n<li>loreto Martorell snapol (vocal)<\/li>\n<li>adolfo Pou serradell (vocal)<\/li>\n<li>Jos\u00e9 Manuel Soria fern\u00e1ndez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Diego Bogu\u00f1\u00e1 Carles De Las distrofias de cinturas recesivas (lgmd2) son enfermedades gen\u00e9ticas que afectan a la [&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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