{"id":33625,"date":"2018-03-09T09:30:51","date_gmt":"2018-03-09T09:30:51","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/nuevas-aportaciones-al-estudio-de-la-biologia-molecular-de-la-alfa-talasemia\/"},"modified":"2018-03-09T09:30:51","modified_gmt":"2018-03-09T09:30:51","slug":"nuevas-aportaciones-al-estudio-de-la-biologia-molecular-de-la-alfa-talasemia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/nuevas-aportaciones-al-estudio-de-la-biologia-molecular-de-la-alfa-talasemia\/","title":{"rendered":"Nuevas aportaciones al estudio de la biolog\u00eda molecular de la alfa talasemia."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Sonia Ayala Jou <\/strong><\/h2>\n<p>El objetivo principal de esta tesis ha sido el estudio genot\u00edpico, mediante t\u00e9cnicas de biolog\u00eda molecular, de 475 pacientes diagnosticados fenot\u00edpicamente como portadores de alfa tal, en base a los par\u00e1metros hematol\u00f3gicos y al analisis electrofor\u00e9tico de hbs. En primer lugar, se realiz\u00f3 un escrutinio molecular de las formas delecionales de alfa tal m\u00e1s frecuentes, mediante southern blot y\/o pcr. Las muestras que resultaron negativas se analizaron mediante pcr-er para detectar las formas m\u00e1s comunes de alfa tal no delecional. A continuaci\u00f3n, las muestras que tambi\u00e9n resultaron negativas para este estudio, fueron analizadas mediante la t\u00e9cnica del polimorfismo conformacional de cadena sencilla (sscp) y posterior secuenciaci\u00f3n g\u00e9nica. De los 475 pacientes estudiados, 425 presentaron formas delecionales de alfa tal: -alfa 3.7 (415 casos), &#8211;med (6 casos) y &#8211;sea (4 casos). En 15 pacientes identificamos dos formas de alfa tal no delecional que afectan al gen alfa-2 globina: la deleci\u00f3n de 5 pb en el ivs 1 (14 casos) y la mutaci\u00f3n atg- acg en el cod\u00f3n de iniciaci\u00f3n (1 caso). Finalmente, detectamos y caracterizamos tres nuevas mutaciones en los genes alfa globina, en tres pacientes espa\u00f1oles no emparentados. Dos de estas mutaciones corresponden a variantes inestables de la hb que se asocian al fenotipo de hemoglobinopat\u00edas talas\u00e9micas: hb lleida (deleci\u00f3n de 12 pb en el ex\u00f3n 3 del gen alfa2) y hb cl\u00ednic (deleci\u00f3n de 3 pb en el ex\u00f3n 2 del gen alfa1). La tercera nueva mutaci\u00f3n identificada corresponde a una deleci\u00f3n de 13 pb en el ex\u00f3n 2 del gen alfa1 que provoca un cambio en la pauta de lectura del arnm y la aparici\u00f3n de un cod\u00f3n de determinaci\u00f3n prematuro en posici\u00f3n 62 de la nueva cadena aminoac\u00eddica. En los 22 casos restantes no pudo identificarse ninguna alteraci\u00f3n molecular.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Nuevas aportaciones al estudio de la biolog\u00eda molecular de la alfa talasemia.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Nuevas aportaciones al estudio de la biolog\u00eda molecular de la alfa talasemia. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Sonia Ayala Jou <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/12\/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>Joan Llu\u00eds Vives Corrons<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: cirilo Rozman borsmar <\/li>\n<li>daniel Grinberg vaisman (vocal)<\/li>\n<li>crist\u00f3bal Mezquita pl\u00e1 (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda De pablos gallego (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Sonia Ayala Jou El objetivo principal de esta tesis ha sido el estudio genot\u00edpico, mediante t\u00e9cnicas 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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