{"id":105412,"date":"2010-03-12T00:00:00","date_gmt":"2010-03-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-del-gen-mybpc3-en-pacientes-con-miocardiopata%c2%ada-hipertrofica-familiar\/"},"modified":"2010-03-12T00:00:00","modified_gmt":"2010-03-12T00:00:00","slug":"analisis-del-gen-mybpc3-en-pacientes-con-miocardiopata%c2%ada-hipertrofica-familiar","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/cardiologia\/analisis-del-gen-mybpc3-en-pacientes-con-miocardiopata%c2%ada-hipertrofica-familiar\/","title":{"rendered":"An\u00e1lisis del gen mybpc3 en pacientes con miocardiopat\u00edahipertr\u00f3fica familiar"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M\u00aa Isabel Rodr\u00edguez Garc\u00eda <\/strong><\/h2>\n<p>Introducci\u00f3n y objetivos las mutaciones en el gen mybpc3 est\u00e1n entre las causas m\u00e1s frecuentes de miocardiopat\u00eda hipertr\u00f3fica(mch), de todas formas su preValencia var\u00eda entre las distintas poblaciones. Estas mutaciones se han asociado, en muchas ocasiones, con manifestaci\u00f3n temprana de la enfermedad. los principales objetivos de esta tesis doctoral fueron: establecer la preValencia de mutaciones en el gen mybpc3 y determinar las caracter\u00edsticas cl\u00ednicas asociadas en nuestros pacientes.  m\u00e9todos screening por polimorfismo de conformaci\u00f3n de cadena sencilla (sscp) y secuenciaci\u00f3n de los fragmentos con movilidad anormal del gen mybpc3 en 130 casos \u00edndice no emparentado y con mch.  adem\u00e1s, screening de mutaciones conocidas en genes causantes de mch, utilizando la plataforma sequenom massarraytm (sequenom inc.). por \u00faltimo, estudios de correlaci\u00f3n genotipo-fenotipo en las familias positivas.  resultados se encontraron 16 mutaciones en 20 casos \u00edndice (15%): 5 nuevas [d75n, v471e, q327fs, ivs6+5g>a (en homocigosis), y ivs11-9g>a] y 11 descritas previamente [a216t, r495w, r502q (2 familias), e542q (3 familias), t957s, r1022p (2 familias), e1179k, k504del, k600fs, p955fs y ivs29+5g>a].  el grosor m\u00e1ximo de la pared del ventr\u00edculo y la edad del diagn\u00f3stico fue similar en pacientes con mutaciones en myh7 y mybpc3 [25(7) vs. 27(8), p=0.16], [46(16) vs. 44(19), p=0.9].  conclusiones las mutaciones en mybpc3 est\u00e1n presentes en el 15% de nuestras familias con mch. La expresi\u00f3n severa y temprana de la hipertrofia es compatible con la presencia de mutaciones en el gen mybpc3. El diagn\u00f3stico gen\u00e9tico no solo permite evitar el seguimiento cl\u00ednico de los no portadores sino que abre nuevas posibilidades que incluyen: tomar decisiones cl\u00ednicas preventivas en portadores de mutaci\u00f3n que no han desarrollado todav\u00eda la enfermedad, el establecimiento de relaciones genotipo-fenotipo, y establecer una rutina de diagn\u00f3stico gen\u00e9tico en pacientes con mch familiar.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis del gen mybpc3 en pacientes con miocardiopat\u00edahipertr\u00f3fica familiar<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis del gen mybpc3 en pacientes con miocardiopat\u00edahipertr\u00f3fica familiar <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M\u00aa Isabel Rodr\u00edguez Garc\u00eda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 A coru\u00f1a<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 03\/12\/2010<\/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>Manuel Hermida Prieto<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Miguel Pocovi  mieras <\/li>\n<li>nieves Dom\u00e9nech Garc\u00eda (vocal)<\/li>\n<li>Juan  ramon Gimeno blanes (vocal)<\/li>\n<li>Juli\u00e1n P\u00e9rez-villacast\u00edn dom\u00ednguez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M\u00aa Isabel Rodr\u00edguez Garc\u00eda Introducci\u00f3n y objetivos las mutaciones en el gen mybpc3 est\u00e1n entre las causas [&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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