{"id":90235,"date":"2018-03-10T00:15:37","date_gmt":"2018-03-10T00:15:37","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-geneticas-de-los-componentes-de-la-hemostasia-y-del-riesgo-de-enfermedad-tromboembolica\/"},"modified":"2018-03-10T00:15:37","modified_gmt":"2018-03-10T00:15:37","slug":"bases-geneticas-de-los-componentes-de-la-hemostasia-y-del-riesgo-de-enfermedad-tromboembolica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/bases-geneticas-de-los-componentes-de-la-hemostasia-y-del-riesgo-de-enfermedad-tromboembolica\/","title":{"rendered":"Bases gen\u00e9ticas de los componentes de la hemostasia y del riesgo de enfermedad tromboemb\u00f3lica"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Souto Andr\u00e9s Juan  Carlos <\/strong><\/h2>\n<p>La trombosis es una enfermedad compleja, resultado de la interacci\u00f3n de m\u00faltiples genes y factores ambientales. El estudio de su base gen\u00e9tica precisa t\u00e9cnicas especiales de epidemiolog\u00eda gen\u00e9tica, nunca utilizadas hasta ahora. Se han reclutado 21 grandes familias espa\u00f1olas, con un total de 398 individuos. Doce familias presentaban trobofilia idip\u00e1tica y las 9 restantes se reclutaron aleatoriamente entre la poblaci\u00f3n general.Se han determinado 40 fenotipos de la hemostasia y un panel extenso de marcadores gen\u00e9ticos. El an\u00e1lisis estad\u00edstico gen\u00e9tico se ha realizado con el m\u00e9todo de componentes de la variancia y el programa especializado \u00absolar\u00bb. Los principales resultados son:  1,- la variabilidad de los fenotipos plasm\u00e1ticos de la hemsotasia esta determinada por los genes. La heredabilidad (h2) de la mayor\u00eda de ellos es superior al 30%.  2,- el riesgo de trombosis tiene una base gen\u00e9tica o heredabilidad muy alta: h2 = 61 + &#8211; 16%. Los genes responsables del riesgo de trombosis venosa parecen ser en gran parte los mismos que determinan el riesgo de trombosis arterial.  3,- los siguientes fenotipso est\u00e1n correlacionados gen\u00e9ticamente (pg &gt; 0) con el riesgo de trombosis: rpca, f vii, f viii, f ix, f xi, f xii, f von willebrand, t-pa homociste\u00edna, folato s\u00e9rico y tiempo de protrombina mediado por trombomodulina. Esto significa que parte de los genes que regulan su expresi\u00f3n plasm\u00e1tica tambi\u00e9n influyen en el riesgo de enfermedad.  4,- los genes que regulan los factores dependientes de la vitamina k (f ii, f vii, f ix, f x, prote\u00edna c y prote\u00edna s) forman un grupo de pleiotrop\u00eda.  5,- la mutaci\u00f3n pt g2021a es funcional respecto a los niveles de protrombina en plasma y tambi\u00e9n respecto al reisgo de trombosis. El polilmorfismo de grupo sangu\u00edneo abo es funcional respecto a los niveles plasm\u00e1ticos de factor viii y factor von willebrand abo.  6,- estos y otros resultados jusfitican la realizaci\u00f3n de un an\u00e1li<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases gen\u00e9ticas de los componentes de la hemostasia y del riesgo de enfermedad tromboemb\u00f3lica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases gen\u00e9ticas de los componentes de la hemostasia y del riesgo de enfermedad tromboemb\u00f3lica <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Souto Andr\u00e9s Juan  Carlos <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/05\/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>Jordi Fontcuberta Boj<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: francesc Gonz\u00e1lez sastr <\/li>\n<li>montserrat Baiget bajtus (vocal)<\/li>\n<li>Manuel Monreal bosch (vocal)<\/li>\n<li>Fernando Martinez brotnos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Souto Andr\u00e9s Juan Carlos La trombosis es una enfermedad compleja, resultado de la interacci\u00f3n de m\u00faltiples genes [&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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