{"id":17115,"date":"2018-03-09T09:05:02","date_gmt":"2018-03-09T09:05:02","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-de-la-sordera-debida-a-mutaciones-en-el-gen-gjb2\/"},"modified":"2018-03-09T09:05:02","modified_gmt":"2018-03-09T09:05:02","slug":"analisis-molecular-de-la-sordera-debida-a-mutaciones-en-el-gen-gjb2","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-molecular-de-la-sordera-debida-a-mutaciones-en-el-gen-gjb2\/","title":{"rendered":"Analisis molecular de la sordera debida a mutaciones en el gen gjb2"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Raquel Rabionet Janssen <\/strong><\/h2>\n<p>La sordera es una patolog\u00eda geneticamente muy compleja. Se cree que hay varios cientos de genes implicados en la audici\u00f3n. Un locus importante de sordera en la poblaci\u00f3n espa\u00f1ola es el locus dfnb1.  el gen responsable de la sordera ligada a dfnb1 es el gen gjb2. Este gen codifica para la conexina 26, la cual estar\u00eda implicada en el reciclaje de los iones potasio en el o\u00eddo interno.  se han estudiado 372 casos de sordera de la poblaci\u00f3n espa\u00f1ola para mutaciones en el gen gjb2, y se han identificado 18 mutaciones distintas. la mutaci\u00f3n m\u00e1s frecuente identificada es la mutaci\u00f3n 35 del g, la cual representa el 56% de las mutaciones identificadas en este gen. Se ha analizado la frecuencia de portadores de 35 del g en diversas poblaciones europeas, siendo la frecuencia media de portadores de 1 en 50, pero observ\u00e1ndose diferencias entre las poblaciones mediterr\u00e1neas (1 en 30) y del centro y norte de europa (1 en 75). Probablemente esta mutaci\u00f3n tenga un origen \u00fanico y su elevada frecuencia sea debida a un efecto fundador y posible ventaja de los heterocigotos.  la mayor parte de las mutaciones identificadas causan sordera profunda de herencia recesiva y de aparici\u00f3n prelingual. Dos de las mutaciones identificadas, g21r yr75q, son causa de sordera autos\u00f3mica dominante no sindr\u00f3mica.  se ha identificado tambi\u00e9n la presencia de una deleci\u00f3n de 342 kb que incluye otro gen de conexinas segregando en trans con mutaciones en el gen de la conexina 26 en 5 casos con sordera de herencia recesiva, siendo esta deleci\u00f3n la tercera mutaci\u00f3n causante de sordera cong\u00e9nita m\u00e1s frecuente identificada.  se ha creado tambi\u00e9n una base de datos consultable a trav\u00e9s de internet (www.Crg.Es\/deafness) con las distintas mutaciones identificadas en el gen gjb2 y en otros genes de conexinas implicados en sordera tanto sindr\u00f3mica como no sindr\u00f3mica.  tambi\u00e9n se ha analizado la implicaci\u00f3n del gen tmprss3 en la sordera de la poblaci\u00f3n es<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis molecular de la sordera debida a mutaciones en el gen gjb2<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis molecular de la sordera debida a mutaciones en el gen gjb2 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Raquel Rabionet Janssen <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/05\/2002<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: lLuisa Vilageliu arqu\u00e9s <\/li>\n<li>n\u00faria Sala serra (vocal)<\/li>\n<li>Luis Alberto P\u00e9rez jurado (vocal)<\/li>\n<li>ignacio Del castillo fern\u00e1ndez del pino (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Raquel Rabionet Janssen La sordera es una patolog\u00eda geneticamente muy compleja. Se cree que hay varios cientos [&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":[951,212,35,962,2820],"tags":[53737,51279,53736,34313,53735,29141],"class_list":["post-17115","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-biologia-humana","category-ciencias-de-la-vida","category-genetica","category-genetica-humana","tag-ignacio-del-castillo-fernandez-del-pino","tag-lluisa-vilageliu-arques","tag-luis-alberto-perez-jurado","tag-nuria-sala-serra","tag-raquel-rabionet-janssen","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/17115","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=17115"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/17115\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=17115"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=17115"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=17115"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}