{"id":14023,"date":"2018-03-09T09:00:33","date_gmt":"2018-03-09T09:00:33","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-de-asociacion-genetica-y-deteccion-de-mutaciones-en-pacientes-con-efermedades-de-parkinson-comparacion-genetico-cla%c2%adnica-entre-los-casos-esporadicos-y-familiares\/"},"modified":"2018-03-09T09:00:33","modified_gmt":"2018-03-09T09:00:33","slug":"estudios-de-asociacion-genetica-y-deteccion-de-mutaciones-en-pacientes-con-efermedades-de-parkinson-comparacion-genetico-cla%c2%adnica-entre-los-casos-esporadicos-y-familiares","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudios-de-asociacion-genetica-y-deteccion-de-mutaciones-en-pacientes-con-efermedades-de-parkinson-comparacion-genetico-cla%c2%adnica-entre-los-casos-esporadicos-y-familiares\/","title":{"rendered":"Estudios de asociaci\u00f3n gen\u00e9tica y detecci\u00f3n de mutaciones en pacientes con efermedades de parkinson. comparaci\u00f3n gen\u00e9tico-cl\u00ednica entre los casos espor\u00e1dicos y familiares"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Mu\u00f1oz Garcia Jos\u00e9 Esteban <\/strong><\/h2>\n<p>Hipotesis  1,- los factores gen\u00e9ticos juegan un papel importante en el desarrollo de la enfermedad de parkinson. (Ep)  2,- es posible identificar rasgos cl\u00ednicos diferenciadores entre los casos familiares y los casos espor\u00e1dicos de ep.  objetivos  objetivos principales  1,- analizar si los polimorfismos del gen de la alfa1-antiquimotripsina y del gen del receptor d2 de la dopamina podr\u00edan inducir una susceptibilidad gen\u00e9tica para el desarrollo de la ep.  2,- investigar la presencia de la mutaciones en el gen de la alfa-sinucle\u00edna y del gen parkin en nuestra poblaci\u00f3n de pacientes con ep.  objetivos secundarios  1,- comparar las caracter\u00edsticas cl\u00ednicas de los casos familiar con los espor\u00e1dicos de ep para determinar la posible presencia de rasgos cl\u00ednicos diferenciadores.  2,- determinar si en los casos de ep familiar existe un fen\u00f3meno de anticipaci\u00f3n gen\u00e9tica.  metodolog\u00eda  se incluyeron sujetos mayores de edad afectos por la ep y sujetos controles sanos. Se investig\u00f3 la existencia de familiares afectos y se realiz\u00f3 una evaluaci\u00f3n cl\u00ednica mediante la escala unificada de la ep (updrs). Se obtuvo una muestra de sangre para estudio gen\u00e9tico tras la firma del consentimiento informado. Mediante amplificaci\u00f3n por pcr, digesti\u00f3n enzim\u00e1tica, sscp y secuenciaci\u00f3n se estudiaron diversas regiones correspondientes a los genes de la alfa-1-antiquimotripsina, el receptor d2 de la dopamina, la alfa-sinucle\u00edna y el gen parkin. Para el procesamiento de los diferentes datos se utiliz\u00f3 un test de anova y un t-test para las pruebas param\u00e9tricas y un test de chi-cuadrado y una u de mann-whitmey para las no param\u00e9tricas.  aportaciones m\u00e1s relevantes  1,-los polimorfismos de la alfa1-antiqumiotripsina y del gen del receptor d2 de la dopamina no condiciona una susceptibilidad para el desarrollo de ep en nuestra poblaci\u00f3n.  2,- las mutaciones de la alfa-sinucle\u00edna son una causa rara de ep familiar.  3,- las muta<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudios de asociaci\u00f3n gen\u00e9tica y detecci\u00f3n de mutaciones en pacientes con efermedades de parkinson. comparaci\u00f3n gen\u00e9tico-cl\u00ednica entre los casos espor\u00e1dicos y familiares<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudios de asociaci\u00f3n gen\u00e9tica y detecci\u00f3n de mutaciones en pacientes con efermedades de parkinson. comparaci\u00f3n gen\u00e9tico-cl\u00ednica entre los casos espor\u00e1dicos y familiares <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Mu\u00f1oz Garcia Jos\u00e9 Esteban <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 26\/11\/2001<\/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>Eduardo Tolosa Sarr\u00f3<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 angel Berciano blanco <\/li>\n<li>jordi Perez tur (vocal)<\/li>\n<li>isidro Ferrer abizanda (vocal)<\/li>\n<li>matilde Calopa garriga (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mu\u00f1oz Garcia Jos\u00e9 Esteban Hipotesis 1,- los factores gen\u00e9ticos juegan un papel importante en el desarrollo 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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