{"id":53559,"date":"2018-03-09T22:41:16","date_gmt":"2018-03-09T22:41:16","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-molecular-de-las-hipoacusias-no-sindromicas-de-tipos-dfnb1-y-dfnb9\/"},"modified":"2018-03-09T22:41:16","modified_gmt":"2018-03-09T22:41:16","slug":"estudio-genetico-molecular-de-las-hipoacusias-no-sindromicas-de-tipos-dfnb1-y-dfnb9","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudio-genetico-molecular-de-las-hipoacusias-no-sindromicas-de-tipos-dfnb1-y-dfnb9\/","title":{"rendered":"Estudio gen\u00e9tico-molecular de las hipoacusias no sindr\u00f3micas de tipos dfnb1 y dfnb9"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Montserrat Rodr\u00edguez Ballesteros <\/strong><\/h2>\n<p>La hipoacusia de tipo dfnb1, causada por mutaciones en el gen de la conexina 26 (gjb2) en 13q12, es el subtipo m\u00e1s frecuente de hipoacusia no sindr\u00f3mica autos\u00f3mica recesiva. Sin embargo, 10-50% de los pacientes con mutaciones en gjb2 aportan un solo alelo mutante (casos monoal\u00e9licos). en nuestro laboratorio se caracteriz\u00f3 una deleci\u00f3n de 309 kb, del (gjb6-d13s1830), que trunca el gen gjb6 (conexina 30) y se demostr\u00f3 que era la mutaci\u00f3n acompa\u00f1ante en m\u00e1s del 50% de los pacientes monoal\u00e9licos en diferentes poblaciones. Sin embargo, quedaban a\u00fan numeroso caso monoal\u00e9licos sin elucidar.  en este trabajo hemos realizado la caracterizaci\u00f3n molecular de una nueva delecci\u00f3n de 232 kb en el locus dnfb1, del (gjb6-d13s1854), que se encontr\u00f3 tambi\u00e9n en trans con mutaciones patog\u00e9nicas de gjb2, en individuos afectados. Desarrollamos un test diagn\u00f3stico para detectar conjuntamente ambas deleciones en un solo ensayo pcr. la mutaci\u00f3n del (gjb6-d13s1854) explica el 25,5% de los casos monoal\u00e9licos que permanec\u00edan sin resolver despu\u00e9s del cribado para del (gjb6-d13s1854) en espa\u00f1a, y se ha encontrado tambi\u00e9n en otros pa\u00edses. el an\u00e1lisis de haplotipos revel\u00f3 un fundador com\u00fan para los alelos del (gjb6-d13s1854) en espa\u00f1a, italia y reino unido. por su parte, la hipoacusia no sindr\u00f3mica de tipo dfnb9 est\u00e1 causada por mutaciones en el gen otof, localizado en 2p22, y que codifica la prote\u00edna otoferlina. En este trabajo hemos identificado 16 nuevas mutaciones en otof. Entre ellas p.Gln829x se encuentra en el 3,4% de los casos de hipoacusia no sindr\u00f3mica autos\u00f3mica recesiva en la poblaci\u00f3n espa\u00f1ola. Hemos puesto a punto un test diagn\u00f3stico sencillo para esta mutaci\u00f3n. el estudio de haplotipos en individuos portadores de la mutaci\u00f3n p.Gln829x sugiere que existe un efecto fundador para esta mutaci\u00f3n en espa\u00f1a, argentina, colombia y cuba. Hemos investigado la correlaci\u00f3n genotipo-fenotipo en individuos con dos mutaciones en otof. De este estudi<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico-molecular de las hipoacusias no sindr\u00f3micas de tipos dfnb1 y dfnb9<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico-molecular de las hipoacusias no sindr\u00f3micas de tipos dfnb1 y dfnb9 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Montserrat Rodr\u00edguez Ballesteros <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 28\/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>Ignacio Del Castillo Fern\u00e1ndez Del Pino<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Garesse alarc\u00f3n <\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<li>constantino Morera p\u00e9rez (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Mill\u00e1n salvador (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Montserrat Rodr\u00edguez Ballesteros La hipoacusia de tipo dfnb1, causada por mutaciones en el gen de la conexina [&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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