{"id":31041,"date":"2018-03-09T09:24:55","date_gmt":"2018-03-09T09:24:55","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-inestabilidad-de-repeticiones-de-trinucleotidos-asociadas-a-enfermedades-geneticas-hereditarias\/"},"modified":"2018-03-09T09:24:55","modified_gmt":"2018-03-09T09:24:55","slug":"estudio-de-la-inestabilidad-de-repeticiones-de-trinucleotidos-asociadas-a-enfermedades-geneticas-hereditarias","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-inestabilidad-de-repeticiones-de-trinucleotidos-asociadas-a-enfermedades-geneticas-hereditarias\/","title":{"rendered":"Estudio de la inestabilidad de repeticiones de trinucle\u00f3tidos asociadas a enfermedades gen\u00e9ticas hereditarias"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Laura Fern\u00e1ndez L\u00f3pez <\/strong><\/h2>\n<p>La expansi\u00f3n de repeticiones de trinucle\u00f3tidos es la base molecular de algunas enfermedades gen\u00e9ticas hereditarias, como la distrof\u00eda miot\u00f3nica tipo 1 (dm1) y el s\u00edndrome del x fr\u00e1gil (fxs). Los alelos expandidos asociados a enfermedades son inestables tanto en la l\u00ednea som\u00e1tica como en la germinal, con una clara tendencia hacia las expansiones. La tasa de expansiones est\u00e1 directamente relacionada con el tama\u00f1o del alelo expandido y con la edad del individuo. Muchos factores gen\u00e9ticos pueden afectar a la inestabilidad de repeticiones de trinucle\u00f3tidos, pero tambi\u00e9n factores ambientales podr\u00edan estar inestabilidad.  para investigar el efecto de factores ambientales en la inestabilidad de repeticiones de trinucle\u00f3tidos, estudiamos:  * el efecto de la mmc en la inestabilidad de las secuencias (ctg)n y (cgg)n end\u00f3genas, asociadas a la dm1 y al fxs, respectivamente, en l\u00edneas celulares deficientes y no deficientes en el sistema de reparaci\u00f3n de falsos apareamientos (mmr), con un n\u00famero normal de repeticiones.  * el efecto de la mmc en la inestabilidad de las repeticiones (ctg)n en alelos normales y patog\u00e9nicos en l\u00edneas celulares linfobastoides derivadas de pacientes dm1 a lo largo del tiempo.  vimos que las mmc induce inestabilidad en secuencias cortas de repeticiones de trinucle\u00f3tidos en la l\u00ednea celular sw480, por un mecanismo en trans independiente de mmr, y en la l\u00ednea hct116, en menor grado , por un mecanismo dependiente de la deficiencia en hmlh1. Tambi\u00e9n vimos que la mmc promueve la inestabilidad en secuencias cortas de l\u00edneas celulares linfoblastoides derivadas de pacientes, y que acelera el proceso de expansi\u00f3n de las repeticiones ctg en alelos patog\u00e9nicos. Esta tesis es la primera demostraci\u00f3n de inducci\u00f3n por mut\u00e1ngenos de inestabilidad de repeticiones de trinucle\u00f3tidos asociadas a enfermedades gen\u00e9ticas humanas.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la inestabilidad de repeticiones de trinucle\u00f3tidos asociadas a enfermedades gen\u00e9ticas hereditarias<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la inestabilidad de repeticiones de trinucle\u00f3tidos asociadas a enfermedades gen\u00e9ticas hereditarias <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Laura Fern\u00e1ndez L\u00f3pez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 23\/06\/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 Surrall\u00e9s Calonge<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Cabr\u00e9 i fabr\u00e9 oriol <\/li>\n<li> Mil\u00ed\u00a0 i recasens montserrat (vocal)<\/li>\n<li>isabel Arrieta saez (vocal)<\/li>\n<li>amadeu Creus capdevila (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Laura Fern\u00e1ndez L\u00f3pez La expansi\u00f3n de repeticiones de trinucle\u00f3tidos es la base molecular de algunas enfermedades gen\u00e9ticas [&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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