{"id":53216,"date":"2018-03-09T22:40:53","date_gmt":"2018-03-09T22:40:53","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacio-dels-factors-genetics-que-determinen-la-variabilitat-dels-nivells-de-fvii-a-la-poblacio-espanyola-resultats-del-projecte-gait\/"},"modified":"2018-03-09T22:40:53","modified_gmt":"2018-03-09T22:40:53","slug":"identificacio-dels-factors-genetics-que-determinen-la-variabilitat-dels-nivells-de-fvii-a-la-poblacio-espanyola-resultats-del-projecte-gait","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/identificacio-dels-factors-genetics-que-determinen-la-variabilitat-dels-nivells-de-fvii-a-la-poblacio-espanyola-resultats-del-projecte-gait\/","title":{"rendered":"Identificaci\u00f3 dels factors gen\u00e9tics que determinen la variabilitat dels nivells de fvii a la poblaci\u00f3 espanyola: resultats del projecte gait"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Sabater Lleal <\/strong><\/h2>\n<p>La trombofilia es la tendencia gen\u00e9tica al tromboembolismo venoso. Con la finalidad de profundizar en las bases gen\u00e9ticas de la trombofiia hereditaria, el objetivo principal de esta tesis es la identificaci\u00f3n de los factores gen\u00e9ticos que determinan la variabilidad de los niveles de fvii en la poblaci\u00f3n espa\u00f1ola.     en primer lugar, se calcul\u00f3 la heredabilidad de los niveles de fvii en un 53%, y mediante un an\u00e1lisis global del genoma se localiz\u00f3 el gen responsable de la variabilidad de los niveles de fvii en la zona cromos\u00f3mica 13q, justo donde se localiza el gen estructural del fvii (f7). Este resultado indica que los factores gen\u00e9ticos que determinan la variabilidad de fvii en plasma se encuentran en el gen estructural.     a continuaci\u00f3n se realiz\u00f3 un an\u00e1lisis gen\u00e9tico exhaustivo y se obtuvieron 49 posiciones polim\u00f3rficas a lo largo del gen f7, la mayor\u00eda cambios de una sola base (snps). Adem\u00e1s, mediante un an\u00e1lisis de la organizaci\u00f3n haplot\u00edpica de la variaci\u00f3n en la secuencia del f7, se observ\u00f3 que existen tres claros linajes de haplotipos que se han mantenido paralelamente en la poblaci\u00f3n espa\u00f1ola por selecci\u00f3n estabilizadora, muy probablemente por una ventaja de los individuos heterozigotos. El an\u00e1lisis de asociaci\u00f3n entre estos linajes y los niveles plasm\u00e1ticos de fvii indica que uno de ellos, caracterizado por los al\u00e9los [-670c, -630g, -402a] est\u00e1 asociado a niveles elevados en la poblaci\u00f3n, y otro, caracterizado por los al\u00e9los [-2989a, -401t, -323ins10, -122c] est\u00e1 asociado a niveles reducidos.     en posteriores an\u00e1lisis de transfecci\u00f3n in vitro con los distintos al\u00e9los utilizando un sistema reporter gfp (green fluorescent protein) permitieron determinar que las variantes -323ins10 i-122c tienen un efecto reductor sobre los niveles de prote\u00edna, y que la variante -402a provoca un aumento significativo de los niveles de fvii. Finalmente, la nueva variante -2989a incrementa tambi\u00e9n de forma muy significativa los<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificaci\u00f3 dels factors gen\u00e9tics que determinen la variabilitat dels nivells de fvii a la poblaci\u00f3 espanyola: resultats del projecte gait<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificaci\u00f3 dels factors gen\u00e9tics que determinen la variabilitat dels nivells de fvii a la poblaci\u00f3 espanyola: resultats del projecte gait <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Sabater Lleal <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/06\/2006<\/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>Jos\u00e9 Manuel Soria Fern\u00e1ndez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: n\u00faria Pujol moix <\/li>\n<li>eduardo Tizzano ferrari (vocal)<\/li>\n<li>Jes\u00fas Mart\u00edn campos (vocal)<\/li>\n<li> Corral de la calle Javier (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Sabater Lleal La trombofilia es la tendencia gen\u00e9tica al tromboembolismo venoso. Con la finalidad de profundizar [&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":[951,11771,2820],"tags":[47672,73456,117459,34312,117458,1505],"class_list":["post-53216","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-genetica-clinica","category-genetica-humana","tag-corral-de-la-calle-javier","tag-eduardo-tizzano-ferrari","tag-jesus-martin-campos","tag-jose-manuel-soria-fernandez","tag-maria-sabater-lleal","tag-nuria-pujol-moix"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53216","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=53216"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53216\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=53216"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=53216"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=53216"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}