{"id":30097,"date":"2018-03-09T09:23:34","date_gmt":"2018-03-09T09:23:34","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-de-31-mutaciones-del-gen-cftr-en-una-muestra-de-la-poblacion-andaluza\/"},"modified":"2018-03-09T09:23:34","modified_gmt":"2018-03-09T09:23:34","slug":"analisis-de-31-mutaciones-del-gen-cftr-en-una-muestra-de-la-poblacion-andaluza","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-de-31-mutaciones-del-gen-cftr-en-una-muestra-de-la-poblacion-andaluza\/","title":{"rendered":"Analisis de 31 mutaciones del gen cftr en una muestra de la poblaci\u00f3n andaluza"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Gomez Llorente Mar\u00eda  Amalia <\/strong><\/h2>\n<p>La fibrosis qu\u00edstica (fq), es la enfermedad hereditaria autos\u00f3mica recesiva m\u00e1s frecuente de la poblaci\u00f3n caucasiana. Se produce por la lateraci\u00f3n del gen cftr localizado en el brazo corto del cromosoma 7. La gen\u00e9tica de esta enfermedad es muy heterog\u00e9nea, de forma que hasta el momento se han detectado m\u00e1s de 1000 mutaciones distintas responsables de la fq. El tipo y la frecuencia de presentaci\u00f3n de dichas mutaciones depende del origen \u00e9tnico y geogr\u00e1fico de la poblaci\u00f3n estudiada. A espa\u00f1a le corresponde la mayor heterogeneidad de europa dificult\u00e1ndose, por tanto, el diagn\u00f3stico gen\u00e9tico. para poder caracterizar un alto n\u00famero de mutaciones se precisan t\u00e9cnicas complejas y costosas que no se encuentran al alcance de casi ninguno de los laboratorios que se dedican al diagn\u00f3stico molecular en espa\u00f1a. Recientemente applied byosistem ha desarrollado un m\u00e9todo que permita la detecci\u00f3n simult\u00e1nea de 31 mutaciones distintas de una forma simple y sencilla. el objetivo del presente trabajo es realizar un estudio basado en la detecci\u00f3n simult\u00e1nea de 31 mutaciones del gen cftr en una muestra de enfermos de fq andaluces y sus familiares en primer grado, e intentar establecer una relaci\u00f3n genotipo-fenotipo en los pacientes estudiados. en una muestra total de 350 cromosomas se aplic\u00f3 el m\u00e9todo anteriormente comentado que combina t\u00e9cnicas de pcr, electroforesis capilar y detecci\u00f3n fluorescente. De dicho an\u00e1lisis se obtuvieron un total de 8 mutaciones distintas en la muestra estudiad y que representan el 68,2% del total de los alelos estudiados: las mutaciones y sus correspondientes frecuencias de presentaci\u00f3n fueron respectivamente delta f508 (43,5%), g542x (11.4%), r334w (5%), r1162x (3%), 2789+5ga (2,3%), delta l507 (1%),y la w1282x (1%). De la aplicaci\u00f3n de este m\u00e9todo aun quedan por detectar el 31,8% de los alelos, bien porque realmente no porten la mutaci\u00f3n, o bien, porque porten una mutaci\u00f3n no detectada por el m\u00e9todo aplicado. Para s<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis de 31 mutaciones del gen cftr en una muestra de la poblaci\u00f3n andaluza<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis de 31 mutaciones del gen cftr en una muestra de la poblaci\u00f3n andaluza <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Gomez Llorente Mar\u00eda  Amalia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Granada<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/05\/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>Jos\u00e9 Antonio Gomez Capilla<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Antonio Molina font <\/li>\n<li>estrella Ruiz requena (vocal)<\/li>\n<li>Jos\u00e9 Gonz\u00e1lez hachero (vocal)<\/li>\n<li>Miguel Morell oca\u00f1a (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Gomez Llorente Mar\u00eda Amalia La fibrosis qu\u00edstica (fq), es la enfermedad hereditaria autos\u00f3mica recesiva m\u00e1s frecuente 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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