{"id":29341,"date":"2018-03-09T09:22:25","date_gmt":"2018-03-09T09:22:25","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-gena%c2%a8tiques-de-la-febre-mediterra-nia-familiar-fmf-a-la-poblacia%c2%b2-espanyola-dina-mica-gena%c2%b2mica-i-hista%c2%b2ria-natural-de-les-mutacions-en-el-locus-mefv\/"},"modified":"2018-03-09T09:22:25","modified_gmt":"2018-03-09T09:22:25","slug":"bases-gena%c2%a8tiques-de-la-febre-mediterra-nia-familiar-fmf-a-la-poblacia%c2%b2-espanyola-dina-mica-gena%c2%b2mica-i-hista%c2%b2ria-natural-de-les-mutacions-en-el-locus-mefv","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/bases-gena%c2%a8tiques-de-la-febre-mediterra-nia-familiar-fmf-a-la-poblacia%c2%b2-espanyola-dina-mica-gena%c2%b2mica-i-hista%c2%b2ria-natural-de-les-mutacions-en-el-locus-mefv\/","title":{"rendered":"Bases gen\u00e9tiques de la febre mediterr\u00c1\u00a0nia familiar (fmf) a la poblaci\u00f3 espanyola, din\u00c1\u00a0mica gen\u00f3mica i hist\u00f3ria natural de les mutacions en el locus mefv"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Aldea Tom\u00e9 Ana Isabel <\/strong><\/h2>\n<p>La fiebre mediterr\u00e1nea familiar (fmf) afecta unas 10.000 a 100.000 personas de origen principalmente \u00e1rabe, armenio, turco y jud\u00edo, y se caracteriza per la recurrencia de episodios autolimitados de fiebre y inflamaci\u00f3n de serosas, sin una causa infecciosa aparente. En la poblaci\u00f3n espa\u00f1ola, los pacientes de fmf descritos son casos aislados y el compendio m\u00e1s extenso es el de pacientes chuetas de mallorca. La reciente clonaci\u00f3n del gen mefv, al 1997, constituy\u00f3 un punto de inflexi\u00f3n en el estudio de la fmf en los m\u00e1s diversos aspectos de la enfermedad y cre\u00f3 grandes expectativas en los campos del diagn\u00f3stico, terap\u00e9utico y preventivo. Adem\u00e1s, el estudio en poblaciones no ancestrales era un campo totalmente inexplorado, partiendo del hecho que se consideraba que la fmf no las afectaba.  la hip\u00f3tesis de trabajo de la presente tesis, se ha basado en que el estudio de las mutaciones del mefv en pacientes de fmf espa\u00f1oles, as\u00ed como la detecci\u00f3n de las posible intervenci\u00f3n de factores modificadores de la enfermedad, permitir\u00eda establecer la relaci\u00f3n causal de las mutaciones del gen mefv y la fmf, as\u00ed como establecer las bases gen\u00e9ticas. Adem\u00e1s, el estudio de la din\u00e1mica gen\u00f3mica del locus mefv permitir\u00eda estudiar la historia natural de las mutaciones m\u00e1s frecuentes en la vertiente occidental de la mediterr\u00e1nea.  las conclusiones del estudio son, en cuanto a las bases gen\u00e9ticas de la fmf en la poblaci\u00f3n espa\u00f1ola, que solo el 53% de los pacientes de fmf espa\u00f1oles tienen una o dos mutaciones en el gen mefv, observ\u00e1ndose un espectro de mutaciones heterog\u00e9neo, mientras que el 47% de los pacientes espa\u00f1oles diagnosticados cl\u00ednicamente de fmf no presenta ninguna mutaci\u00f3n en el mefv ni en ninguno de los genes conocidos responsables de otros shfp. Existe una alta frecuencia de pacientes heterocigotos, la cual cuestiona el patr\u00f3n de herencia de la fmf y sugiere la existencia de al menos otro locus implicado en la en<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases gen\u00e9tiques de la febre mediterr\u00c1\u00a0nia familiar (fmf) a la poblaci\u00f3 espanyola, din\u00c1\u00a0mica gen\u00f3mica i hist\u00f3ria natural de les mutacions en el locus mefv<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases gen\u00e9tiques de la febre mediterr\u00c1\u00a0nia familiar (fmf) a la poblaci\u00f3 espanyola, din\u00c1\u00a0mica gen\u00f3mica i hist\u00f3ria natural de les mutacions en el locus mefv <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Aldea Tom\u00e9 Ana Isabel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/03\/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>Jordi Yague<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: francesc Cardellach l\u00f3pez <\/li>\n<li>virginia Nunes mart\u00ednez (vocal)<\/li>\n<li>manel Juan  otero (vocal)<\/li>\n<li>Mar\u00eda  cinta Cid  xutgl? (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Aldea Tom\u00e9 Ana Isabel La fiebre mediterr\u00e1nea familiar (fmf) afecta unas 10.000 a 100.000 personas de origen [&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":[951,1820,2820],"tags":[83032,29277,83033,44288,33855,29144],"class_list":["post-29341","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-genetica-de-poblaciones","category-genetica-humana","tag-aldea-tome-ana-isabel","tag-francesc-cardellach-lopez","tag-jordi-yagae","tag-manel-juan-otero","tag-maria-cinta-cid-xutgl","tag-virginia-nunes-Martinez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/29341","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=29341"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/29341\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=29341"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=29341"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=29341"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}