{"id":38751,"date":"2018-03-09T09:38:29","date_gmt":"2018-03-09T09:38:29","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-molecular-del-polimorfismo-nat2-en-poblacion-espanola\/"},"modified":"2018-03-09T09:38:29","modified_gmt":"2018-03-09T09:38:29","slug":"estudio-molecular-del-polimorfismo-nat2-en-poblacion-espanola","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-molecular-del-polimorfismo-nat2-en-poblacion-espanola\/","title":{"rendered":"Estudio molecular del polimorfismo nat2 en poblacion espa\u00f1ola."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Manuela Olivera Tirado <\/strong><\/h2>\n<p>La n-acetilaci\u00f3n constituye un paso detoxificador de aminas arom\u00e1ticas, hidrazinas y xenobi\u00f3ticos, catalizado por la enzima n-acetiltransferasa 2 (nat2). El polimorfismo acetilador se debe a un rasgo recesivo, originando dos fenotipos: acetilador r\u00e1pido (ar) y acetilador lento (al), variando las frecuencias seg\u00fan los distintos grupos \u00e9tnicos.  mediante las t\u00e9cnicas de secuenciaci\u00f3n autom\u00e1tica y de amplificaci\u00f3n en cadena de la polimerasa, se han estudiado las bases moleculares del polimorfismo nat2 en 504 voluntarios sanos espa\u00f1oles. Se detectaron 7 mutaciones en el gen: 191a, 282t, 341c, 481t, 590a, 803g y 857a, que dan origen a 17 variantes al\u00e9licas diferentes, seis de las cuales han sido descubiertas en este estudio. Un 75% de los alelos causan fenotipo al, siendo los m\u00e1s frecuentes nat*5b (55%) y nat2*6a (35%), portadores respectivamente de las mutaciones inactivadoras 341c y 282t+590a. El alelo wt \u00f3 nat2*4 (86%) es el mayoritario entre los responsables del fenoripo ar. Con estos datos la frecuencia calculada de individuos al es del 56%, muy pr\u00f3xima al 57% seg\u00fan datos reales de fenotipo para nuestra poblaci\u00f3n.  tambi\u00e9n cabe destacar la identificaci\u00f3n de la mutaci\u00f3n 191a en nuestra poblaci\u00f3n, pues hasta el momento s\u00f3lo se habia detectado en poblaciones de raza negra, aunque s\u00f3lo representa el 0.8% de los alelos mutados causante de fenotipo al.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio molecular del polimorfismo nat2 en poblacion espa\u00f1ola.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio molecular del polimorfismo nat2 en poblacion espa\u00f1ola. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Manuela Olivera Tirado <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Extremadura<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/10\/1998<\/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>Julio Benitez Rodriguez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio Garcia garcia <\/li>\n<li>Jos\u00e9 Mar\u00eda Ladero quesada (vocal)<\/li>\n<li>M\u00aa carmen Mart\u00ednez oliva (vocal)<\/li>\n<li>Carlos Guti\u00e9rrez merino (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Manuela Olivera Tirado La n-acetilaci\u00f3n constituye un paso detoxificador de aminas arom\u00e1ticas, hidrazinas y xenobi\u00f3ticos, catalizado por [&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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