{"id":78097,"date":"2018-03-09T23:23:41","date_gmt":"2018-03-09T23:23:41","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-de-la-alfa-talasemia-no-delecion\/"},"modified":"2018-03-09T23:23:41","modified_gmt":"2018-03-09T23:23:41","slug":"estudio-molecular-de-la-alfa-talasemia-no-delecion","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-de-la-alfa-talasemia-no-delecion\/","title":{"rendered":"Estudio molecular de la alfa talasemia no deleci\u00f3n"},"content":{"rendered":"

Tesis doctoral de Brice\u00f1o Polacre Olga Mar\u00eda <\/strong><\/h2>\n

Introducci\u00f3n las alfa talasemias constituyen un grupo de enfermedades de origen gen\u00e9tico, causadas por una disminuci\u00f3n o ausencia en la s\u00edntesis de la cadena alfa de globina. En la mayor\u00eda de los casos esta alteraci\u00f3n en la s\u00edntesis es debido a delecciones que afectan a uno o a los dos genes, alfa, siendo poco frecuente los casos debidos a mutaciones puntuales, inserciones o delaciones de pocos pares de bases, los cuales se han denominado alfa talasemias no delecci\u00f3n. objetivo en esta investigaci\u00f3n se plantea el objetivo de determinar la incidencia de la alfa talasemia no deleci\u00f3n en los pacientes con alfa talasemia, utilizando t\u00e9cnicas de biolog\u00eda molecular. material se han estudiado 517 individuos en el per\u00edodo comprendido entre enero del 2001 a diciembre del 2003, pacientes que presentaban microcitosis para el diagn\u00f3stico de alfa talasemia en los que previamente se hab\u00eda descartado feropenia y presentaba hb a2, hb f y eef de hbs normales. m\u00e9todos se han estudiado los 2 tipos de alta talasemia no deleci\u00f3n mas frecuentemente descritos en el mediterr\u00e1neo: 1,- alfahph debida a la delecci\u00f3n de 5bp en el ivs i 2,- alfanco debida a un cambio en el cod\u00f3n de iniciaci\u00f3n del gen. Para su an\u00e1lisis se amplifica de forma selectiva el gen alfa2 y el gen alfa1 por pcr y luego se realiza una digesti\u00f3n con al enzima de restricci\u00f3n espec\u00edfica, hph i para la mutaci\u00f3n alfahph y nco i para alfanco. el estudio de la alfa talasemia delecci\u00f3n se hizo por southern blot con las enzimas de restricci\u00f3n bam hi y bgi ll y las sondas alfa y en el caso de las alfa+, complet\u00e1ndose el estudio con diversas enzimas y sondas en los casos restantes resultaron positivos para la alfanco del gen alfa2, 10 heterocigotos, 1 homocigoto y 1 doble heterocigoto asociado a la deleci\u00f3n 4,2 kb. conclusi\u00f3n la alfa talasemia no deleci\u00f3n representa mayor 8% de los casos de alfa talasemia en nuestro medio. La alfahph es el tipo<\/p>\n

 <\/p>\n

Datos acad\u00e9micos de la tesis doctoral \u00abEstudio molecular de la alfa talasemia no deleci\u00f3n<\/strong>\u00ab<\/h3>\n
    \n
  • T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular de la alfa talasemia no deleci\u00f3n <\/li>\n
  • Autor:<\/strong>\u00a0 Brice\u00f1o Polacre Olga Mar\u00eda <\/li>\n
  • Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n
  • Fecha de lectura de la tesis:<\/strong>\u00a0 21\/12\/2005<\/li>\n<\/ul>\n

     <\/p>\n

    Direcci\u00f3n y tribunal<\/h3>\n
      \n
    • Director de la tesis<\/strong>\n
        \n
      • Ana Villegas Martinez<\/li>\n<\/ul>\n<\/li>\n
      • Tribunal<\/strong>\n
          \n
        • Presidente del tribunal: benito Del castillo garcia <\/li>\n
        • felix Carbonell ramon (vocal)<\/li>\n
        • Luis Hernandez nieto (vocal)<\/li>\n
        • Burgaleta alonso de oza carmen (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

           <\/p>\n","protected":false},"excerpt":{"rendered":"

          Tesis doctoral de Brice\u00f1o Polacre Olga Mar\u00eda Introducci\u00f3n las alfa talasemias constituyen un grupo de enfermedades de origen gen\u00e9tico, causadas […]<\/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":[1],"tags":[9707,4776,167980,167981,39952,9971],"class_list":["post-78097","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-ana-villegas-Martinez","tag-benito-del-castillo-garcia","tag-briceno-polacre-olga-maria","tag-burgaleta-alonso-de-oza-carmen","tag-felix-carbonell-ramon","tag-luis-hernandez-nieto"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/78097","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=78097"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/78097\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=78097"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=78097"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=78097"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}