Il est difficile de prouver l’appartenance \u00e0 la forme autosomique r\u00e9cessive en analysant l’histoire de famille. Il s’agit g\u00e9n\u00e9ralement d’un cas isol\u00e9 au sein de la famille (forme dite simplex). On ne peut donc pas exclure qu’il s’agisse d’une n\u00e9omutation. La personne atteinte d’une maladie autosomique r\u00e9cessive a deux g\u00e8nes mut\u00e9s, ce qui signifie que les deux parents doivent \u00eatre porteurs, sans \u00eatre affect\u00e9s par la maladie et sans le savoir. Les fr\u00e8res et s\u0153urs d’une personne atteinte d’une maladie autosomique r\u00e9cessive peuvent \u00eatre porteurs du g\u00e8ne mut\u00e9 ou non. <\/p>\n\n\n\n
La ventilation statistique est la suivante: une personne atteinte, deux porteurs du g\u00e8ne mut\u00e9, une personne saine. Toutefois, comme la subdivision 1 : 2 : 1 est le r\u00e9sultat de la combinaison al\u00e9atoire th\u00e9orique de g\u00e8nes, il se peut fort bien qu’en pratique, aucun des enfants ne soit malade ou que tous soient malades. En r\u00e8gle g\u00e9n\u00e9rale, les enfants d’une personne atteinte d’une maladie autosomique r\u00e9cessive ne la contracteront pas, \u00e0 condition qu’il n’y ait pas de consanguinit\u00e9 entre les parents et que l’autre parent ait des yeux sains. Cependant, ces enfants sont tous des porteurs sains du g\u00e8ne mut\u00e9. Pour eux, le risque de donner naissance \u00e0 des enfants atteints d’une maladie est tr\u00e8s faible. Malheureusement, selon l’arbre g\u00e9n\u00e9alogique, il n’est pas toujours possible d’\u00eatre certain qu’une personne atteinte est r\u00e9ellement affect\u00e9e d’une maladie autosomique r\u00e9cessive. Si, \u00e0 l’avenir, l’analyse de l’ADN d’un \u00e9chantillon de sang permettait de classer avec certitude le type de maladie, de nombreuses personnes affect\u00e9es n’auraient plus \u00e0 se soucier de donner naissance \u00e0 des enfants atteints de la m\u00eame maladie.<\/p>\n\n\n
\n<\/figure>\n<\/div>\n\n\n
Repr\u00e9sentation sch\u00e9matique des possibilit\u00e9s d’h\u00e9ritage r\u00e9cessif (noir = malade ; blanc = sain ; noir et blanc = porteur de g\u00e8nes sains)<\/p>\n","protected":false},"excerpt":{"rendered":"
Le g\u00e8ne responsable de la maladie est transmis aussi bien par le p\u00e8re que par la m\u00e8re.<\/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-3385","netzhauterkrankungen","type-netzhauterkrankungen","status-publish","hentry","category-heritage"],"acf":[],"yoast_head":"\n
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