{"id":33169,"date":"2018-03-09T09:30:10","date_gmt":"2018-03-09T09:30:10","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-de-la-ictiosis-x-y-de-la-ictiosis-laminar\/"},"modified":"2018-03-09T09:30:10","modified_gmt":"2018-03-09T09:30:10","slug":"estudio-molecular-de-la-ictiosis-x-y-de-la-ictiosis-laminar","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-molecular-de-la-ictiosis-x-y-de-la-ictiosis-laminar\/","title":{"rendered":"Estudio molecular de la ictiosis x y de la ictiosis laminar"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M. Angela Hernandez Martin <\/strong><\/h2>\n<p>La ictiosis x es un trastorno hereditario de la queratinizaci\u00f3n que se hereda segun un patron hereditario ligado al sexo. Su aparici\u00f3n est\u00e1 condicionada por el d\u00e9ficit del enzima sulfatasa esteroidea (sts), cuyo gen se localiza en la porci\u00f3n terminal del brazo corto del cromosoma x (xp22.3).  en el 90 por 100 de los pacientes de ictiosis x, la anomal\u00eda molecular detectada es una deleci\u00f3n total del gen de la sts, mientras que el resto presenta una deleci\u00f3n parcial del gen u otra alteraci\u00f3n diferente a la deleci\u00f3n. En este proyecto doctoral se ha analizado el dna de 26 pacientes de ictiosis x por medio de las t\u00e9cnicas de southern y de la reacci\u00f3n en cadena de la polimerasa (pcr). El m\u00e9todo de southern demostr\u00f3 la existencia de 25 pacientes con deleci\u00f3n total del gen de la sts y un \u00fanico caso con deleci\u00f3n parcial del mismo, mientras que mediante la pcr se detectaron 18 casos con deleci\u00f3n total y 7 pacientes (pertenecientes a 4 familias diferentes) con una deleci\u00f3n parcial del gen.  por otra parte, se ha tratado de normalizar un m\u00e9todo para detectar, por medio de la t\u00e9cnica de southern, a las mujeres portadoras de ictiosis x, tanto como para ofrecerles el adecuado consejo gen\u00e9tico como para prevenir las posibles complicaciones en el momento del parto de un feto var\u00f3n.  por \u00faltimo, se ha realizado el an\u00e1lisis gen\u00e9tico de varias de las prote\u00ednas constituyentes de la envoltura cornificada del queratinocito en 8 pacientes con ictiosis laminar. No se han detectado alteraciones moleculares en la involucrina ni en la filagrina por medio del m\u00e9todo de southern. En cuanto al enzima transglutaminasa epid\u00e9rmica, cuyo gen se ha visto alterado en numerosos enfermos con esta enfermedad, no se han observado anomal\u00edas moleculares a nivel de los exones 2 y 3 del mismo mediante la sscp, pero existen resultados preliminares que indican la existencia de una mutaci\u00f3n en tres de los pacientes analizados por cflp (cleavase<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecular de la ictiosis x y de la ictiosis laminar<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular de la ictiosis x y de la ictiosis laminar <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M. Angela Hernandez Martin <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Salamanca<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/10\/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>Pablo De Unamuno P\u00e9rez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: agust\u00edn Mart\u00edn pascual <\/li>\n<li>Antonio Torrelo fern\u00e1ndez (vocal)<\/li>\n<li>eduardo Fonseca capdevila (vocal)<\/li>\n<li>carmen Pe\u00f1a penabad (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M. Angela Hernandez Martin La ictiosis x es un trastorno hereditario de la queratinizaci\u00f3n que se hereda [&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":[155,9,97,11771,9386],"tags":[9397,45407,90722,29729,90721,9395],"class_list":["post-33169","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-medicas","category-dermatologia","category-genetica-clinica","category-salamanca","tag-agustin-martin-pascual","tag-antonio-torrelo-fernandez","tag-carmen-pena-penabad","tag-eduardo-fonseca-capdevila","tag-m-angela-hernandez-martin","tag-pablo-de-unamuno-perez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/33169","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=33169"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/33169\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=33169"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=33169"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=33169"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}