{"id":74788,"date":"2018-03-09T23:19:52","date_gmt":"2018-03-09T23:19:52","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetic-variation-in-humans-and-chimpanzees-in-the-prion-protein-gene\/"},"modified":"2018-03-09T23:19:52","modified_gmt":"2018-03-09T23:19:52","slug":"genetic-variation-in-humans-and-chimpanzees-in-the-prion-protein-gene","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/genetic-variation-in-humans-and-chimpanzees-in-the-prion-protein-gene\/","title":{"rendered":"Genetic variation in humans and chimpanzees in the prion protein gene"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Marta Soldevila Trepat <\/strong><\/h2>\n<p>El estudio detallado del gen de la prote\u00edna pri\u00f3nica es un punto importante para entender las enfermedades provocadas por priones, como son, cjd, ffi, gss en humanos y bse en bovinos. La reciente aparici\u00f3n de la variante de cjd, vcjd, hace de vital importancia el estudio con detenimiento del gen prnp. Nuestro trabajo ha consistido en el estudio de este gen en diferentes poblaciones representativas de la variaci\u00f3n gen\u00e9tica en humanos, especialmente para el polimorfismo en el cod\u00f3n 129, para tratar de comprender la variabilidad existente y relacionarla con posibles susceptibilidades a estas enfermedades. el an\u00e1lisis de todas estas poblaciones nos ha servido tambi\u00e9n para entender posibles diferencias en la patolog\u00eda y susceptibilidad, bas\u00e1ndonos en las diferencias poblacionales que existen en las frecuencias de los diferentes alelos y sobre todo de los haplotipos. El gran esfuerzo de secuenciaci\u00f3n nos ha proporcionado tambi\u00e9n informaci\u00f3n sobre el tipo de selecci\u00f3n que est\u00e1 actuando en este gen prnp. Hemos podido descartar completamente hip\u00f3tesis previas que postulaban que la selecci\u00f3n balanceadora era la fuerza decisiva en este gen, y negar as\u00ed, que el canibalismo haya sido general y persistente en nuestra especie. El estudio a nivel de secuencia de pacientes con enfermedades pri\u00f3nicas ha sido tambi\u00e9n uno de los puntos de inter\u00e9s de nuestro trabajo. el estudio detallado del gen en los casos de cjd espor\u00e1dico ha descartado el origen gen\u00e9tico de esta enfermedad, que representa el 80% de los casos de prionopat\u00edas humanas y que a\u00fan no se conoce la causa. Otro punto importante ha sido el estudio del gen desde un punto de vista evolutivo, incluyendo as\u00ed en el an\u00e1lisis otros primates, como el chimpanc\u00e9, para ver qu\u00e9 diferencias existen en estas dos especies tan cercanas. Hemos estudiado en detalle ciertos polimorfismos que en humanos aumentan la susceptibilidad (o protegen) a estas enfermedades y hemos visto que en esta es<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Genetic variation in humans and chimpanzees in the prion protein gene<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Genetic variation in humans and chimpanzees in the prion protein gene <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Marta Soldevila Trepat <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 20\/06\/2005<\/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>Jaume Bertranpetit Busquets<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: marti Pumarola batlle <\/li>\n<li>jordi Yag\u00ed\u00bce ribes (vocal)<\/li>\n<li>agnar Helgason (vocal)<\/li>\n<li>carmen Segarra robert (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Marta Soldevila Trepat El estudio detallado del gen de la prote\u00edna pri\u00f3nica es un punto importante para [&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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