{"id":3389,"date":"2020-10-28T16:19:48","date_gmt":"2020-10-28T15:19:48","guid":{"rendered":"https:\/\/dev.retina.ch\/?post_type=netzhauterkrankungen&p=3389"},"modified":"2025-03-05T16:28:02","modified_gmt":"2025-03-05T15:28:02","slug":"x-linked","status":"publish","type":"netzhauterkrankungen","link":"https:\/\/retina.ch\/fr\/degenerescences-retiniennes\/x-linked\/","title":{"rendered":"H\u00e9r\u00e9dit\u00e9 li\u00e9e au chromosome X"},"content":{"rendered":"\n
Dans le cas de l’h\u00e9r\u00e9dit\u00e9 li\u00e9e au sexe (transmission h\u00e9r\u00e9ditaire du chromosome X), seuls les hommes contractent la maladie, tandis que les femmes – sans \u00eatre affect\u00e9es ou sans \u00eatre massivement limit\u00e9es dans leur capacit\u00e9 visuelle – pourraient \u00eatre porteuses de la maladie. La mutation g\u00e9n\u00e9tique responsable de cette forme h\u00e9r\u00e9ditaire se trouve sur le chromosome X. C’est la femme qui a un g\u00e8ne \u00ab\u00a0malade\u00a0\u00bb sur l’un des deux chromosomes X, mais cach\u00e9 par le g\u00e8ne \u00ab\u00a0sain\u00a0\u00bb sur son autre chromosome X (r\u00e9cessif). L’enfant m\u00e2le d’un porteur, qui a h\u00e9rit\u00e9 du chromosome X avec le g\u00e8ne mut\u00e9, tombera malade parce que le chromosome Y h\u00e9rit\u00e9 du p\u00e8re n’est pas capable de compenser comme le ferait un g\u00e8ne sain sur le second chromosome X. Le g\u00e8ne de la maladie est situ\u00e9 sur l’un des deux chromosomes X de la m\u00e8re porteuse saine (XX). La moiti\u00e9 des enfants de sexe masculin peuvent \u00eatre malades, l’autre moiti\u00e9 peut \u00eatre en bonne sant\u00e9. La moiti\u00e9 des filles d’un porteur peut \u00e9galement \u00eatre porteuse et l’autre moiti\u00e9 n’aura pas le g\u00e8ne de la maladie dans sa constitution g\u00e9n\u00e9tique. Un p\u00e8re affect\u00e9 de RP X-chromosomique aura des filles qui sont toutes porteuses, tandis que les fils seront tous en bonne sant\u00e9.<\/p>\n\n\n
\n<\/figure>\n<\/div>\n\n\n
Repr\u00e9sentation sch\u00e9matique de l’h\u00e9ritage r\u00e9cessif li\u00e9 au chromosome X (noir = malade ; blanc = sain ; noir et blanc = porteur de g\u00e8nes sains<\/p>\n","protected":false},"excerpt":{"rendered":"
La forme li\u00e9e au chromosome X: la m\u00e8re, dans la plupart des cas non atteinte elle-m\u00eame de la maladie, transmet le g\u00e8ne responsable.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[66],"class_list":["post-3389","netzhauterkrankungen","type-netzhauterkrankungen","status-publish","hentry","category-heritage"],"acf":[],"yoast_head":"\n
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