{"id":110046,"date":"2011-08-07T00:00:00","date_gmt":"2011-08-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-cla%c2%adnico-y-genetico-molecular-de-las-ictiosis-congenitas-autosomicas-recesivas-en-galicia\/"},"modified":"2011-08-07T00:00:00","modified_gmt":"2011-08-07T00:00:00","slug":"estudio-cla%c2%adnico-y-genetico-molecular-de-las-ictiosis-congenitas-autosomicas-recesivas-en-galicia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/dermatologia\/estudio-cla%c2%adnico-y-genetico-molecular-de-las-ictiosis-congenitas-autosomicas-recesivas-en-galicia\/","title":{"rendered":"Estudio cl\u00ednico y gen\u00e9tico-molecular de las ictiosis cong\u00e9nitas autos\u00f3micas recesivas en galicia"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Laura Rodr\u00edguez  Pazos <\/strong><\/h2>\n<p>Estudio cl\u00ednico y gen\u00e9tico-molecular de las ictiosis cong\u00e9nitas autos\u00f3micas recesivas en galicia  introducci\u00f3n: en las ictiosis cong\u00e9nitas autos\u00f3micas recesivas (icar) se han identificado mutaciones en seis genes. Pocos estudios han analizado el espectro de mutaciones en poblaciones espec\u00edficas. objetivos: estudiar las caracter\u00edsticas de los pacientes con icar en galicia (noroeste espa\u00f1a). resultados: se identificaron 23 pacientes con icar y se estim\u00f3 una preValencia de 1:122000. De los veinte pacientes estudiados, diecisiete se categorizaron como ictiosis laminar (il) y tres como eritrodermia ictiosiforme cong\u00e9nita (eic). Se detectaron mutaciones en los genes tgm1 y aloxe3 en el 75% de los probandos. No se encontraron mutaciones en los genes alox12b, nipal4 y cyp4f22. El tgm1 fue responsable del 68,75% de los probandos con icar y del 84,62% de los probandos con il. Solo un paciente con eic present\u00f3 mutaciones en el aloxe3. Las mutaciones p.Arg760x, p.Asp408valfsx21 y c.984+1g>a en el tgm1 fueron responsables del 70% de los alelos mutados. La alta frecuencia de estas mutaciones, el elevado n\u00famero de probandos homocigotos (63,64%) y el hecho de que estas mutaciones se hayan descrito una \u00fanica vez fuera de galicia apuntan a la existencia de fen\u00f3menos de deriva g\u00e9nica en esta regi\u00f3n. El estudio de haplotipos demostr\u00f3 la existencia de antepasados comunes ya que los miembros afectos de cada familia que portaban cada una de las tres mutaciones compart\u00edan los mismos haplotipos. Se estim\u00f3 que las mutaciones se originaron aproximadamente hace 3000 a\u00f1os, pero el antepasado com\u00fan m\u00e1s reciente data de hace 1200 a\u00f1os. conclusiones: la alta preValencia de icar y la alta frecuencia de pacientes portadores de las mismas mutaciones en galicia se deben a la existencia de un fuerte efecto fundador en la regi\u00f3n. palabras clave: ictiosis cong\u00e9nita autos\u00f3mica recesiva, galicia, tgm1, aloxe3, mutaci\u00f3n fundadora.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio cl\u00ednico y gen\u00e9tico-molecular de las ictiosis cong\u00e9nitas autos\u00f3micas recesivas en galicia<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio cl\u00ednico y gen\u00e9tico-molecular de las ictiosis cong\u00e9nitas autos\u00f3micas recesivas en galicia <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Laura Rodr\u00edguez  Pazos <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 08\/07\/2011<\/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>Jaime Toribio Perez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: narciso P\u00e9rez  oliva <\/li>\n<li>angeles Florez menendez (vocal)<\/li>\n<li>angel Mar\u00eda Carracedo alvarez (vocal)<\/li>\n<li>Francisco V\u00e1zquez l\u00f3pez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Laura Rodr\u00edguez Pazos Estudio cl\u00ednico y gen\u00e9tico-molecular de las ictiosis cong\u00e9nitas autos\u00f3micas recesivas en galicia introducci\u00f3n: en [&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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