{"id":17786,"date":"2018-03-09T09:06:02","date_gmt":"2018-03-09T09:06:02","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudios-citogeneticos-moleculares-de-la-fragilidad-del-cromosoma-sexual-x-y-enfermedades-hereditarias-monogenicas-en-bovinos-de-la-raza-holando-uruguayo-bos-taurus\/"},"modified":"2018-03-09T09:06:02","modified_gmt":"2018-03-09T09:06:02","slug":"estudios-citogeneticos-moleculares-de-la-fragilidad-del-cromosoma-sexual-x-y-enfermedades-hereditarias-monogenicas-en-bovinos-de-la-raza-holando-uruguayo-bos-taurus","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/estudios-citogeneticos-moleculares-de-la-fragilidad-del-cromosoma-sexual-x-y-enfermedades-hereditarias-monogenicas-en-bovinos-de-la-raza-holando-uruguayo-bos-taurus\/","title":{"rendered":"Estudios citogen\u00e9ticos moleculares de la fragilidad del cromosoma sexual x y enfermedades hereditarias monogenicas en bovinos de la raza holando-uruguayo (bos taurus)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Silvia Llambi Dellacasa <\/strong><\/h2>\n<p>En la presente tesis efectuamos el estudio de:  a,- fragilidad cromos\u00f3mica en hembras de la raza bovina holando-uruguayo (holstein-friesian) utilizando afidicolina como inductor qu\u00edmico. Se identificaron mediante bandeo rbg los sitios de fractura localizados en autosomas y en el cromosoma sexual x de placas metaf\u00e1sicas en cultivos linfocitarios. particularmente centralizamos el estudio en el cromosoma sexual x por los antecedentes de investigaciones previas sobre la relaci\u00f3n entre la fragilidad de este cromosoma con problemas reproductivos y reordenamientos a nivel evolutivo. En este cromosoma identificamos 5 sitios de fracturas (tres en el brazo q y dos en el brazo p). Se utilizaron t\u00e9cnicas de citogen\u00e9tica-molecular (microdisecci\u00f3n cromos\u00f3mica-dop-pcr, prins, fish, southern-blot) con el objetivo de conocer caracter\u00edsticas moleculares de los sitios fragiles del x bovino. Se tom\u00f3 como modelo al gen fmr-1 i humano del fraxa evidenci\u00e1ndose homolog\u00edas del 87-89% en las secuencias estudiadas. Se identific\u00f3 la presencia del triplete cgg en las secuencias homologas al fmr-1 sin evidencia de expansi\u00f3n. La microdisecci\u00f3n cromos\u00f3mica de regi\u00f3n de fragilidad xq3.1-3.4 en bovinos, el prins con cebadores del fraxa y el fish con sonda cgg permitieron conocer aspectos del mapeo g\u00e9nico comparativo y estudio de regiones pericentrom\u00e9ricas y ricas en cg en esta especie.  b,- se analiz\u00f3 una muestra poblacional de hembras y machos con el objetivo de estudiar por pcr-rflp la presencia de alelos mutantes para las enfermedades hereditarias blad, dumps y citrulinemia bovina. Para la enfermedad blad se identific\u00f3 la presencias de animales portadores con una frecuencia del gen mutante de q=0.029. Para el dumps y citrulinemia no se identificaron animales portadores.  se discuten los resultados obtenidos y las ventajas de esta t\u00e9cnica para el control de enfermedades hereditarias.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudios citogen\u00e9ticos moleculares de la fragilidad del cromosoma sexual x y enfermedades hereditarias monogenicas en bovinos de la raza holando-uruguayo (bos taurus)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudios citogen\u00e9ticos moleculares de la fragilidad del cromosoma sexual x y enfermedades hereditarias monogenicas en bovinos de la raza holando-uruguayo (bos taurus) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Silvia Llambi Dellacasa <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 26\/06\/2002<\/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>Mar\u00eda  Victoria Arruga Lavi\u00f1a<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Bonafonte zaragoza Jos\u00e9 ignacio <\/li>\n<li>demetris Savva (vocal)<\/li>\n<li>alicia Postiglioni kudrason (vocal)<\/li>\n<li>julio Gil Garc\u00eda (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Silvia Llambi Dellacasa En la presente tesis efectuamos el estudio de: a,- fragilidad cromos\u00f3mica en hembras 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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