{"id":117832,"date":"2015-10-07T00:00:00","date_gmt":"2015-10-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-etiologa%c2%ada-genetica-de-la-insuficiencia-ovarica-primaria-poi-genes-fmr1-y-fmr2\/"},"modified":"2015-10-07T00:00:00","modified_gmt":"2015-10-07T00:00:00","slug":"estudio-de-la-etiologa%c2%ada-genetica-de-la-insuficiencia-ovarica-primaria-poi-genes-fmr1-y-fmr2","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-humana\/estudio-de-la-etiologa%c2%ada-genetica-de-la-insuficiencia-ovarica-primaria-poi-genes-fmr1-y-fmr2\/","title":{"rendered":"Estudio de la etiolog\u00eda gen\u00e9tica de la insuficiencia ov\u00e1rica primaria (poi): genes fmr1 y fmr2"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Maitane Barasoain Hernandez <\/strong><\/h2>\n<p>La insuficiencia ov\u00c2\u00bfrica primaria (poi) es una disfunci\u00c2\u00bfn ov\u00c2\u00bfrica caracterizada por la aparici\u00c2\u00bfn de menstruaciones irregulares y niveles altos de gonadotropinas antes de los 40 a\u00c2\u00bfos. Los alelos intermedios (35-54 cggs) y premutados (55-200 cggs) del gen fmr1 se han relacionado ampliamente con el desarrollo de poi. Los alelos con 11 o menos ccgs del gen fmr2 son tambi\u00c2\u00bfn una posible causa gen\u00c2\u00bftica de poi. Se ha analizado un grupo de 68 mujeres con una disfunci\u00c2\u00bfn ov\u00c2\u00bfrica de etiolog\u00c2\u00bfa desconocida, dividido a su vez en tres grupos seg\u00c2\u00bfn las caracter\u00c2\u00bfsticas del ciclo menstrual, y 47 mujeres control, ambos del pa\u00c2\u00bfs vasco. Se ha evaluado el gen fmr1, incluyendo el n\u00c2\u00bfmero de repeticiones cgg y el patr\u00c2\u00bfn de interrupciones agg, y el n\u00c2\u00bfmero de repeticiones ccg del gen fmr2. Respecto al gen fmr1, la frecuencia de alelos con \u00c2\u00bf35 cggs en el grupo de pacientes y en los tres subgrupos es significativamente superior al grupo control. Adem\u00c2\u00bfs estos alelos presentan mayoritariamente dos interrupciones agg, la primera agg en la posici\u00c2\u00bfn 10 y m\u00c2\u00bfs de 15 cgg ininterrumpidas en el extremo 3\u00c2\u00bf con la estructura 9+9+n. El grupo de pacientes presenta en general alelos m\u00c2\u00bfs inestables y, por tanto, el gen fmr1 parece jugar un papel en la etiolog\u00c2\u00bfa de la poi en este grupo. Respecto al gen fmr2, no se ha encontrado una relaci\u00c2\u00bfn significativa con el desarrollo de una disfunci\u00c2\u00bfn ov\u00c2\u00bfrica.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la etiolog\u00eda gen\u00e9tica de la insuficiencia ov\u00e1rica primaria (poi): genes fmr1 y fmr2<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la etiolog\u00eda gen\u00e9tica de la insuficiencia ov\u00e1rica primaria (poi): genes fmr1 y fmr2 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Maitane Barasoain Hernandez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 10\/07\/2015<\/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>Gorka Barrenetxea Ziarrusta<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Schneider fontan <\/li>\n<li>jordi Surralles calonge (vocal)<\/li>\n<li>olga Pe\u00f1agarikano ahedo (vocal)<\/li>\n<li>Mar\u00eda  bego\u00f1a Criado alonso (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Maitane Barasoain Hernandez La insuficiencia ov\u00c2\u00bfrica primaria (poi) es una disfunci\u00c2\u00bfn ov\u00c2\u00bfrica caracterizada por la aparici\u00c2\u00bfn de [&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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