{"id":64148,"date":"2018-03-09T22:52:08","date_gmt":"2018-03-09T22:52:08","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-enfermedad-de-parkinson-familiar-con-microarrays-de-snps-de-alta-densidad\/"},"modified":"2018-03-09T22:52:08","modified_gmt":"2018-03-09T22:52:08","slug":"estudio-de-enfermedad-de-parkinson-familiar-con-microarrays-de-snps-de-alta-densidad","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/neurologia\/estudio-de-enfermedad-de-parkinson-familiar-con-microarrays-de-snps-de-alta-densidad\/","title":{"rendered":"Estudio de enfermedad de parkinson familiar con microarrays de snps de alta densidad"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M\u00aa Sagrario Manzano Palomo <\/strong><\/h2>\n<p>1.\tLas formas cl\u00ednicas de enfermedad de parkinson familiar autos\u00f3mico recesivas de inicio tard\u00edo, cl\u00ednicamente benignas, existen en la poblaci\u00f3n general.  2.\tEstas formas cl\u00ednicas son aparentemente espor\u00e1dicas, pero mediante un estudio detallado se objetiva una herencia autos\u00f3mica.  3.\tEl an\u00e1lisis de segregaci\u00f3n compleja no es aplicable al estudio de familias con herencia compleja como las que aqu\u00ed se presentan, ya que no tiene en cuenta fen\u00f3menos como los patrones pseudo dominantes. Entre las razones causales podemos a\u00f1adir las propias limitaciones del asc (se desconoce el m\u00ednimo n para alcanzar potencia estad\u00edstica). Por ello no podemos conocer mediante asc el tipo de herencia de estas familias.  4.\tLos arrays de alta densidad de snps constituyen una herramienta sencilla y r\u00e1pida para examinar desde el punto de vista gen\u00e9tico-molecular familias con enfermedades neurol\u00f3gicas de herencia compleja entre las cuales est\u00e1 la enfermedad de parkinson.  5.\tEl estudio por homozigoidad con arrays con alta densidad permite la localizaci\u00f3n de genes en familias con herencia recesiva en las cuales no es posible realizar el an\u00e1lisis de ligamiento cl\u00e1sico.  6.\tEl an\u00e1lisis de la variabilidad en el n\u00famero de copias g\u00e9nicas (duplicaciones, delecciones, triplicaciones) mediante arrays de alta densidad permite descartar la implicaci\u00f3n de los genes recesivos conocidos (pink1, dj1 y parkin).  7.\tLos arrays de snps de alta densidad constituyen la herramienta de estudio m\u00e1s \u00fatil actualmente para evaluar formas familiares de ep de herencia compleja.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de enfermedad de parkinson familiar con microarrays de snps de alta densidad<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de enfermedad de parkinson familiar con microarrays de snps de alta densidad <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M\u00aa Sagrario Manzano Palomo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Alcal\u00e1<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/04\/2008<\/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>Adriano Jimenez Escrig<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: melchor Alvarez de mon soto <\/li>\n<li>f\u00e9lix Bermejo pareja (vocal)<\/li>\n<li>Jos\u00e9 Luis Rodriguez garcia (vocal)<\/li>\n<li>Antonio S\u00e1nchez herranz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M\u00aa Sagrario Manzano Palomo 1. Las formas cl\u00ednicas de enfermedad de parkinson familiar autos\u00f3mico recesivas de inicio [&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":[17426,1880],"tags":[17595,46651,19628,141563,14431,141562],"class_list":["post-64148","post","type-post","status-publish","format-standard","hentry","category-alcala","category-neurologia","tag-adriano-jimenez-escrig","tag-antonio-sanchez-herranz","tag-felix-bermejo-pareja","tag-jose-luis-rodriguez-garcia","tag-melchor-alvarez-de-mon-soto","tag-ma-sagrario-manzano-palomo"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/64148","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=64148"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/64148\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=64148"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=64148"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=64148"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}