{"id":13458,"date":"2020-08-14T08:58:29","date_gmt":"2020-08-14T08:58:29","guid":{"rendered":"https:\/\/fivclinic.es\/?p=2872"},"modified":"2024-12-22T17:53:29","modified_gmt":"2024-12-22T17:53:29","slug":"estudi-genetic-de-portadors-que-es","status":"publish","type":"post","link":"https:\/\/fivclinic.es\/ca\/estudi-genetic-de-portadors-que-es\/","title":{"rendered":"Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important?"},"content":{"rendered":"\r\n<h4 class=\"wp-block-heading\"><strong>A la consulta de fertilitat disposem de diferents <a href=\"https:\/\/fivclinic.es\/estudis-genetics\/\">estudis gen\u00e8tics<\/a> per proporcionar a les parelles un assessorament gen\u00e8tic complet. D&#8217;acord amb els antecedents familiars, o b\u00e9 amb les malalties que puguin presentar els pacients, es poden fer diferents proves gen\u00e8tiques. Una d&#8217;elles \u00e9s l&#8217;estudi gen\u00e8tic de portadors. Aquesta prova permet identificar de quines patologies autos\u00f2miques recessives \u00e9s portador un individu. <\/strong><\/h4>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Qu\u00e8 \u00e9s un estudi gen\u00e8tic de portadors? <\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Els estudis gen\u00e8tics de portadors tenen l\u2019objectiu d\u2019identificar de quines patologies autos\u00f2miques recessives \u00e9s portador un individu. En el cas de les dones, identificar tamb\u00e9 les malalties lligades al cromosoma X.<\/p>\r\n\r\n\r\n\r\n<p>S\u2019estima que tots som portadors de patologies recessives. No obstant, en la majoria dels casos ser portador d\u2019una patologia recessiva no t\u00e9 conseq\u00fc\u00e8ncies cl\u00edniques per l\u2019individu. Per aix\u00f2 desconeixem de quines patologies som portadors.<\/p>\r\n\r\n\r\n\r\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\r\n<p>La probabilitat que un individu sigui portador d\u2019una patologia recessiva varia depenent de la patologia. A la nostra poblaci\u00f3, algunes de les patologies en que la freq\u00fc\u00e8ncia de portadors \u00e9s m\u00e9s elevada s\u00f3n la <strong>fibrosi qu\u00edstica<\/strong> (1 de cada 36 persones s\u00f3n portadores) o l\u2019<strong>atrofia muscular espinal<\/strong> (1 de cada 40 persones ho s\u00f3n).<\/p>\r\n<\/blockquote>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Malalties autos\u00f2miques recessives<\/strong><\/h4>\r\n\r\n<p>Les malalties autos\u00f2miques recessives s\u00f3n aquelles que per desenvolupar la malaltia \u00e9s necessari que les dues copies del gen (la copia heretada del pare i l\u2019heretada de la mare) estiguin alterades. Quan \u00fanicament una de les copies del gen est\u00e0 alterada, l\u2019individu \u00e9s portador d\u2019aquella patologia.<\/p>\r\n<p>Una parella t\u00e9 risc de transmetre una patologia autos\u00f2mica recessiva a la seva descend\u00e8ncia quan s\u00f3n portadors de la mateixa patologia. En aquest cas, el seu fill t\u00e9 un 25% de risc de heretar la patologia, un 50% de ser portador sa com els pares i un 25% de risc de ser sa i no portador.<\/p>\r\n<p style=\"text-align: center;\">\u00a0 \u00a0<iframe src=\"https:\/\/player.vimeo.com\/video\/442351772\" width=\"640\" height=\"360\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/p>\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Malalties lligades al cromosoma X<\/strong><\/h4>\r\n\r\n\r\n\r\n<p style=\"font-size: 14px;\">Les malalties lligades al cromosoma X s\u00f3n aquelles en que el gen responsable es troba al cromosoma X. Les dones al tenir dos cromosomes X, som portadores de la malaltia per\u00f2 els homes, al ser XY, desenvolupen la patologia.<\/p>\r\n\r\n\r\n\r\n<p>Quan una dona \u00e9s portadora d\u2019una malaltia lligada al cromosoma X, les seves filles tenen un 50% de risc de ser portadores i els seus fills tenen un 50% de risc d\u2019heretar la malaltia. En alguns casos, les dones poden presentar manifestacions cl\u00edniques associades a la patologia. Aix\u00f2 \u00e9s perqu\u00e8 en cadascuna de les c\u00e8l\u00b7lules s\u2019inactiva un dels cromosomes X a l\u2019atzar.<\/p>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Com es realitza un estudi gen\u00e8tic de portadors? <\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Es realitza a partir de l\u2019ADN obtingut d\u2019una mostra de sang perif\u00e8rica. Amb aquesta mostra se seq\u00fcencien els gens associats a les malalties gen\u00e8tiques recessives incloses en l\u2019estudi.<\/p>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>A qui va dirigit? <\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Els estudis gen\u00e8tics de portadors s\u00f3n una opci\u00f3 per aquelles parelles que volen reduir el risc que el seu fill\/a desenvolupi una patologia recessiva.<\/p>\r\n\r\n\r\n\r\n<ul class=\"wp-block-list\">\r\n<li>Con\u00e8ixer que ambd\u00f3s membres de la parella s\u00f3n portadors de la mateixa patologia recessiva o que la dona \u00e9s portadora d\u2019una malaltia lligada al X, els permet poder optar a una de les opcions reproductives disponibles per evitar transmetre la malaltia<\/li>\r\n<li>En les parelles que recorreran a una donaci\u00f3 de g\u00e0metes. L&#8217;estudi permet assignar un\/a donant que no sigui portador de les mateixes patologies recessives que el membre de la parella que aportar\u00e0 el g\u00e0meta. Si una donant \u00e9s portadora d\u2019una patologia lligada al cromosoma X, es descarta del programa de donaci\u00f3.<\/li>\r\n<\/ul>\r\n\r\n\r\n\r\n<p><strong>Dra. Belen Garcia.\u00a0<\/strong><em>Assessora gen\u00e8tica de FIVcl\u00ednic.<\/em><\/p>\r\n","protected":false},"excerpt":{"rendered":"<p>A la consulta de fertilitat disposem de diferents estudis gen\u00e8tics per proporcionar a les parelles un assessorament gen\u00e8tic complet. D&#8217;acord amb els antecedents familiars, o b\u00e9 amb les malalties que puguin presentar els pacients, es poden fer diferents proves gen\u00e8tiques. Una d&#8217;elles \u00e9s l&#8217;estudi gen\u00e8tic de portadors. Aquesta prova permet identificar de quines patologies autos\u00f2miques&hellip; <a class=\"more-link\" href=\"https:\/\/fivclinic.es\/ca\/estudi-genetic-de-portadors-que-es\/\">Continueu llegint <span class=\"screen-reader-text\">Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important?<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[254,271],"tags":[],"autores":[],"tipo_de_blog":[],"class_list":["post-13458","post","type-post","status-publish","format-standard","hentry","category-diagnostic","category-laboratori","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important? - fivcl\u00ednic | barnacl\u00ednic+<\/title>\n<meta name=\"description\" content=\"L&#039;estudi gen\u00e8tic de portadors permet identificar de quines patologies autos\u00f2miques recessives som portadors per reduir el risc que el fill\/a la desenvolupi.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/fivclinic.es\/ca\/estudi-genetic-de-portadors-que-es\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important? - fivcl\u00ednic | barnacl\u00ednic+\" \/>\n<meta property=\"og:description\" content=\"L&#039;estudi gen\u00e8tic de portadors permet identificar de quines patologies autos\u00f2miques recessives som portadors per reduir el risc que el fill\/a la desenvolupi.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/fivclinic.es\/ca\/estudi-genetic-de-portadors-que-es\/\" \/>\n<meta property=\"og:site_name\" content=\"fivcl\u00ednic | barnacl\u00ednic+\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-14T08:58:29+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-12-22T17:53:29+00:00\" \/>\n<meta name=\"author\" content=\"lai.amoros\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrit per\" \/>\n\t<meta name=\"twitter:data1\" content=\"lai.amoros\" \/>\n\t<meta name=\"twitter:label2\" content=\"Temps estimat de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minuts\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/\"},\"author\":{\"name\":\"lai.amoros\",\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/#\\\/schema\\\/person\\\/2eb955a187e138d5f5c87cca23469c77\"},\"headline\":\"Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important?\",\"datePublished\":\"2020-08-14T08:58:29+00:00\",\"dateModified\":\"2024-12-22T17:53:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/\"},\"wordCount\":623,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/#organization\"},\"articleSection\":[\"Diagn\u00f2stic\",\"Laboratori\"],\"inLanguage\":\"ca\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/\",\"url\":\"https:\\\/\\\/fivclinic.es\\\/ca\\\/estudi-genetic-de-portadors-que-es\\\/\",\"name\":\"Estudi gen\u00e8tic de portadors: qu\u00e8 \u00e9s i per qu\u00e8 \u00e9s important? 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