{"id":361,"date":"2014-03-27T17:10:45","date_gmt":"2014-03-27T16:10:45","guid":{"rendered":"http:\/\/s519078666.onlinehome.fr\/?page_id=361"},"modified":"2014-09-03T15:18:16","modified_gmt":"2014-09-03T14:18:16","slug":"la-transmission-autosomique-recessive","status":"publish","type":"page","link":"http:\/\/www.stargardt.fr\/test\/la-genetique-gene-abca4\/la-transmission-autosomique-recessive\/","title":{"rendered":"La transmission autosomique r\u00e9cessive"},"content":{"rendered":"<h2>Comprendre la transmission g\u00e9n\u00e9tique de la maladie de Stargardt<\/h2>\n<p><strong>La maladie de Stargardt est de forme Autosomique R\u00e9cessive, s<strong>auf pour la forme due \u00e0 la mutation du g\u00e8ne ELOVL4.<\/strong><\/strong><\/p>\n<h3>Qu\u2019est-ce que cela veut dire\u00a0?<\/h3>\n<p>Tous les g\u00e8nes existent par paire. Chaque personne h\u00e9rite, pour chaque paire de g\u00e8ne, d\u2019un g\u00e8ne de son p\u00e8re et d\u2019un g\u00e8ne de sa m\u00e8re<\/p>\n<p>La forme habituelle de la maladie de Stargardt est une maladie dite autosomique r\u00e9cessive. Cela signifie que le caract\u00e8re g\u00e9n\u00e9tique de la maladie s\u2019exprime chez les enfants ayant re\u00e7u le g\u00e8ne alt\u00e9r\u00e9 (mut\u00e9) par transmission \u00e0 la fois de leur p\u00e8re et de leur m\u00e8re.<\/p>\n<p>Le terme autosomique signifie que le g\u00e8ne est situ\u00e9 sur un chromosome qui n\u2019intervient pas dans la d\u00e9termination du sexe.<\/p>\n<p>Le terme r\u00e9cessif signifie que le caract\u00e8re h\u00e9r\u00e9ditaire doit \u00eatre transmis par le p\u00e8re et la m\u00e8re pour se manifester. Pour une maladie autosomique dominante, seule la transmission du caract\u00e8re par le p\u00e8re ou la m\u00e8re suffit pour qu\u2019il se manifeste.<\/p>\n<h4>Exemple de la transmission autosomique <span style=\"text-decoration: underline;\">r\u00e9cessive<\/span> de la maladie de Stargardt<\/h4>\n<p>&nbsp;<\/p>\n<p><a href=\"http:\/\/s519078666.onlinehome.fr\/wp-content\/uploads\/2014\/03\/genetique.gif\" rel=\"PrettyPhoto[361]\"><img loading=\"lazy\" class=\"alignnone size-full wp-image-457\" src=\"http:\/\/s519078666.onlinehome.fr\/wp-content\/uploads\/2014\/03\/genetique.gif\" alt=\"genetique\" width=\"531\" height=\"338\" \/><\/a><\/p>\n<p>&nbsp;<\/p>\n<p><em>D\u2019apr\u00e8s Orphaschool\u00a0: transmission des maladies g\u00e9n\u00e9tiques<\/em><\/p>\n<p><strong><em>A\u00a0: copie du g\u00e8ne ABCA4 normal\u00a0; a\u00a0: copie du g\u00e8ne ABCA4 mut\u00e9<\/em><\/strong><\/p>\n<p>Une personne est dite homozygote si elle porte les \u00a0m\u00eames exemplaires du g\u00e8ne dans la paire de g\u00e8ne.<\/p>\n<p>Une personne est dite h\u00e9t\u00e9rozygote si elle porte soit deux exemplaires du g\u00e8ne avec des mutations diff\u00e9rentes, soit un exemplaire du g\u00e8ne alt\u00e9r\u00e9 et un exemplaire du g\u00e8ne normal.<\/p>\n<ul>\n<li><strong>L\u2019enfant a\/a est homozygote malade car il porte 2 exemplaires du g\u00e8ne avec la m\u00eame mutation. Il est atteint de la maladie de Stargardt.<\/strong><\/li>\n<li>L\u2019enfant A\/A est homozygote sain car il porte les m\u00eames exemplaires du g\u00e8ne normal sur la paire de chromosome. Il \u00a0n\u2019est pas malade et ne transmettra pas la maladie.<\/li>\n<li>L\u2019enfant\u00a0 A\/a est h\u00e9t\u00e9rozygote et porteur sain. Il porte un exemplaire du g\u00e8ne normal et un exemplaire du g\u00e8ne alt\u00e9r\u00e9 (mut\u00e9).\u00a0 Il n\u2019est pas malade mais peut transmettre la maladie.<\/li>\n<\/ul>\n<div style=\"padding-bottom:20px; padding-top:10px;\" class=\"hupso-share-buttons\"><!-- Hupso Share Buttons - https:\/\/www.hupso.com\/share\/ --><a class=\"hupso_toolbar\" href=\"https:\/\/www.hupso.com\/share\/\"><img src=\"http:\/\/static.hupso.com\/share\/buttons\/lang\/fr\/share.png\" rel=\"PrettyPhoto[361]\" style=\"border:0px; padding-top: 5px; float:left;\" alt=\"Share Button\"\/><\/a><script type=\"text\/javascript\">var hupso_services_t=new Array(\"Twitter\",\"Facebook\",\"Google Plus\");var hupso_background_t=\"#EAF4FF\";var hupso_border_t=\"#66CCFF\";var hupso_toolbar_size_t=\"big\";var hupso_image_folder_url = \"\";var hupso_url_t=\"\";var hupso_title_t=\"La%20transmission%20autosomique%20r%C3%A9cessive\";<\/script><script type=\"text\/javascript\" src=\"http:\/\/static.hupso.com\/share\/js\/share_toolbar.js\"><\/script><!-- Hupso Share Buttons --><\/div>","protected":false},"excerpt":{"rendered":"<p>Comprendre la transmission g\u00e9n\u00e9tique de la maladie de Stargardt La maladie de Stargardt est de forme Autosomique R\u00e9cessive, sauf pour la forme due \u00e0 la mutation du g\u00e8ne ELOVL4. Qu\u2019est-ce que cela veut dire\u00a0? Tous les g\u00e8nes existent par paire. Chaque personne h\u00e9rite, pour chaque paire de g\u00e8ne, d\u2019un g\u00e8ne de son p\u00e8re et d\u2019un&#8230;<\/p>\n<div style=\"padding-bottom:20px; padding-top:10px;\" class=\"hupso-share-buttons\"><!-- Hupso Share Buttons - https:\/\/www.hupso.com\/share\/ --><a class=\"hupso_toolbar\" href=\"https:\/\/www.hupso.com\/share\/\"><img src=\"http:\/\/static.hupso.com\/share\/buttons\/lang\/fr\/share.png\" style=\"border:0px; padding-top: 5px; float:left;\" alt=\"Share Button\"\/><\/a><script type=\"text\/javascript\">var hupso_services_t=new Array(\"Twitter\",\"Facebook\",\"Google Plus\");var hupso_background_t=\"#EAF4FF\";var hupso_border_t=\"#66CCFF\";var hupso_toolbar_size_t=\"big\";var hupso_image_folder_url = \"\";var hupso_url_t=\"\";var hupso_title_t=\"La%20transmission%20autosomique%20r%C3%A9cessive\";<\/script><script type=\"text\/javascript\" src=\"http:\/\/static.hupso.com\/share\/js\/share_toolbar.js\"><\/script><!-- Hupso Share Buttons --><\/div>","protected":false},"author":2,"featured_media":0,"parent":303,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v19.4 - 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