{"id":36642,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacion-de-mutaciones-en-el-gen-del-factor-ix-de-la-coagulacion-mediante-sscp\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"identificacion-de-mutaciones-en-el-gen-del-factor-ix-de-la-coagulacion-mediante-sscp","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/identificacion-de-mutaciones-en-el-gen-del-factor-ix-de-la-coagulacion-mediante-sscp\/","title":{"rendered":"Identificacion de mutaciones en el gen del factor ix de la coagulacion mediante sscp."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Montejo Gadea Juan  Manuel <\/strong><\/h2>\n<p>La hemofilia b es una enfermedad recesiva ligada al cromosoma x producida por un gama muy variada de mutaciones en el gen del factor ix de la coagulaci]on.  para poder identificar la mutaci]on en los pacientes espa\u00f1oles de hemofilia b se examin]o sistem\u00e1ticamente las zonas codificantes, la regi]on del promotor y las regiones implicadas en el procesamiento intr]on-ex]on del gen del factor ix mediante la t\u00e9cnica del an\u00e1lisis de polimorfismos de cadena sencilla de dna (sscp o ssca).  inicialmente se evalu]o la eficacia del m\u00e9todo y se examinaron m\u00faltiples par\u00e1metros, fundamentalmente la temperatura de electroforesis, el tamp]on de electroforesis y la concentraci]on y composici]on del gel. Seg\u00fan los resultados obtenidos, el sscp se mostr]o como un m\u00e9todo muy eficaz para detectar mutaciones en hemofilia b, con una sensibilidad del 90,47%. Este abordaje ha permitido la identificaci]on de 52 mutaciones distintas, de las que 21 no han sido identificadas previamente. Las mutaciones encontradas confirman la alta heterogeneidad molecular de esta enfermedad y apoya la necesidad de disponer de un m\u00e9todo eficaz de diagn]ostico directo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificacion de mutaciones en el gen del factor ix de la coagulacion mediante sscp.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificacion de mutaciones en el gen del factor ix de la coagulacion mediante sscp. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Montejo Gadea Juan  Manuel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/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>Jes\u00fas Solera Garcia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Jos\u00e9 Arag\u00f3n Reyes <\/li>\n<li>Jes\u00fas Molano Mateos (vocal)<\/li>\n<li>Antonio Coloma Jerez (vocal)<\/li>\n<li>Alberto Domingo Gal\u00e1n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Montejo Gadea Juan Manuel La hemofilia b es una enfermedad recesiva ligada al cromosoma x producida por [&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":[160,115,940,17],"tags":[56484,29794,42409,74695,14521,96830],"class_list":["post-36642","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-bioquimica-molecular","category-genetica-bioquimica","category-quimica","tag-alberto-domingo-galan","tag-antonio-coloma-jerez","tag-jesus-molano-mateos","tag-jesus-solera-garcia","tag-juan-jose-aragon-reyes","tag-montejo-gadea-juan-manuel"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/36642","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=36642"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/36642\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=36642"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=36642"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=36642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}