{"id":20578,"date":"2018-03-09T09:09:58","date_gmt":"2018-03-09T09:09:58","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-las-mutaciones-del-gen-fancc-y-fanca-en-pacientes-espanoles-con-anemia-de-fanconi\/"},"modified":"2018-03-09T09:09:58","modified_gmt":"2018-03-09T09:09:58","slug":"estudio-de-las-mutaciones-del-gen-fancc-y-fanca-en-pacientes-espanoles-con-anemia-de-fanconi","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-las-mutaciones-del-gen-fancc-y-fanca-en-pacientes-espanoles-con-anemia-de-fanconi\/","title":{"rendered":"Estudio de las mutaciones del gen fancc y fanca en pacientes espa\u00f1oles con anemia de fanconi"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Celina Benavente Cuesta <\/strong><\/h2>\n<p>Introducci\u00f3n  la anemia de fanconi (af), es una enfermedad cong\u00e9nita transmitida por herencia autos\u00f3mica recesiva, caracterizada por m\u00faltiples anomal\u00edas m\u00fasculo-esquel\u00e9ticas y cut\u00e1neas, fracaso de la m\u00e9dula \u00f3sea y predisposici\u00f3n del c\u00e1ncer. El diagn\u00f3stico est\u00e1ndar se basa en el incremento de la fragilidad cromos\u00f3mica espont\u00e1nea de las c\u00e9lulas de estos enfermos ante la presencia de agentes alquilantes como la mitomicina c o diepoxibutano.  en los \u00faltimos a\u00f1os se han identificado 8 subtipos gen\u00e9ticos (faa-fah). el primer gen secuenciado fue el gen fancc, el subtipo gen\u00e9tico fa-c engloba un 12-15% del total de los enfermos con af, siendo las mutaciones m\u00e1s frecuentes de este gen la ivs4+4 a&gt;t y 322 del g (84%). El segundo gen que se secuenci\u00f3 fue el gen fanca, el subtipo gen\u00e9tico fa-a es el m\u00e1s frecuente y engloba en torno a un 60-66% de los pacientes con af y presenta una amplia variabilidad en cuanto a las mutaciones encontradas, hasta m\u00e1s de 70 mutaciones descritas.  objetivo  introducci\u00f3n de t\u00e9cnicas de biolog\u00eda molecular para el estudio de las mutaciones m\u00e1s frecuentes de los genes fancc y fanca de los pacientes espa\u00f1oles con af.  material  dna gen\u00f3mico extra\u00eddo de sangre perif\u00e9rica de 21 pacientes diagnosticados de af mediante caracter\u00edsticas cl\u00ednico\/hematol\u00f3gicas y test de fragilidad cromos\u00f3mica inducida positivo (5 de los cuales ten\u00edan alta sospecha diagn\u00f3stica con test cromos\u00f3mico no concluyentes).  m\u00e9todos  para el estudio de las mutaciones ivs4+4-t y 322delg del gen fancc se utiliz\u00f3 la t\u00e9cnica pcr-arms (amplification refractory mutation system). para el estudio del gen fanca se utiliz\u00f3 la t\u00e9cnica rna-sscp (single strand conformation polymorphism) para el screening de mutaciones de cada ex\u00f3n y en caso de sospecha se realiz\u00f3 secuenciaci\u00f3n directa del mismo.  resultados  no se ha identificado ninguna de las dos mutaciones estudiadas del gen fancc en ning\u00fan paciente.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de las mutaciones del gen fancc y fanca en pacientes espa\u00f1oles con anemia de fanconi<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de las mutaciones del gen fancc y fanca en pacientes espa\u00f1oles con anemia de fanconi <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Celina Benavente Cuesta <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/12\/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>Ana Villegas Mart\u00ednez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: domingo Espinos perez <\/li>\n<li>eduardo Rocha hernando (vocal)<\/li>\n<li>Luis Hern\u00e1ndez nieto (vocal)<\/li>\n<li>montserrat L\u00f3pez rubio (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Celina Benavente Cuesta Introducci\u00f3n la anemia de fanconi (af), es una enfermedad cong\u00e9nita transmitida por herencia autos\u00f3mica [&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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