{"id":134589,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/aplicacion-de-la-tecnica-de-biologia-molecular-al-diagnostico-de-la-alfa-talasemia\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"aplicacion-de-la-tecnica-de-biologia-molecular-al-diagnostico-de-la-alfa-talasemia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/aplicacion-de-la-tecnica-de-biologia-molecular-al-diagnostico-de-la-alfa-talasemia\/","title":{"rendered":"Aplicacion de la tecnica de biolog\u00eda molecular al diagnostico de la alfa talasemia."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Amelia Porres Cubero <\/strong><\/h2>\n<p>Las talasemias constituyen un grupo heterogeneo de enfermedades hereditarias en las que existe un defecto de sintesis de una o mas cadenas polipeptidicas que forman la hemoglobina. En la alfa talasemia el defecto de sintesis corresponde a las cadenas alfa, componentes tanto de la hemoglobina fetal (hb f (gamma2 alfa2)) como de la del adulto (hba (alfa2 beta2)). La sintesis reducida de cadenas alfa, tanto en la vida fetal como en la adulta, origina un exceso de cadenas gamma o beta que forman tetrameros: hb bart (gamma4) y hb h (beta4).  objetivo: aplicar las tecnicas de biolog\u00eda molecular al diagnostico de la alfa talasemia.  material y metodos: se estudian 240 sujetos, 120 controles y 120 talasemicos clasificados de la siguiente forma: 61 con genotipo (-1alfa\/alfa alfa), 25 con genotipo (-alfa\/-alfa), 21 con rasgo talasemico (&#8211;\/alfa alfa) y 13 con enfermedad de la hemoglobina h (&#8211;\/-alfa).  en todos ellos se aplicaron tecnicas de southern blotting de biolog\u00eda molecular.  resultados: se comparan los resultados hemocitometricos, estudio reticulocitario, electroforesis de hemoglobina a2 y f y de la masa ferrica, distribuidos en 5 grupos segun su genotipo, buscando diferencias significativas en algun parametro hematologico.  encontramos 2 mutaciones, previamente descritas en la literatura mundial (&#8211;cal) y (&#8211;sea) y otras tres propias de la etnia hispana (&#8211;span), (&#8211;cant) y (&#8211;br), pertenecientes al grupo de talasemias alfa0.  conclusion: solo se llega a un diagnostico de certeza de las alfa talasemias utilizando tecnicas de biolog\u00eda molecular.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Aplicacion de la tecnica de biolog\u00eda molecular al diagnostico de la alfa talasemia.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Aplicacion de la tecnica de biolog\u00eda molecular al diagnostico de la alfa talasemia. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Amelia Porres Cubero <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/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> Villegas Martinez Ana M.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Domingo Espinos Perez <\/li>\n<li>Jos\u00e9 Sanchez Fayos (vocal)<\/li>\n<li> De Ojo Otero Manuel (vocal)<\/li>\n<li>Francisco Valverde Moreno (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Amelia Porres Cubero Las talasemias constituyen un grupo heterogeneo de enfermedades hereditarias en las que existe un [&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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