{"id":1384094,"date":"2026-05-21T13:41:43","date_gmt":"2026-05-21T11:41:43","guid":{"rendered":"https:\/\/dnaera.com\/cs\/?p=1384094"},"modified":"2026-05-25T11:30:32","modified_gmt":"2026-05-25T09:30:32","slug":"okulokutanni-albinismus-typu-2","status":"publish","type":"post","link":"https:\/\/dnaera.com\/cs\/blog\/okulokutanni-albinismus-typu-2\/","title":{"rendered":"Skryt\u00e9 v genech: albinismus, kter\u00e9ho si mo\u017en\u00e1 nev\u0161imnete."},"content":{"rendered":"\n<p><em>Se slovem albinismus se jist\u011b setkal ka\u017ed\u00fd z n\u00e1s. N\u011bkdo si mo\u017en\u00e1 p\u0159edstav\u00ed b\u00edlou my\u0161 s \u010derven\u00fdma o\u010dima nebo \u010dlov\u011bka s b\u00edlou poko\u017ekou i vlasy a velmi sv\u011btl\u00fdma o\u010dima. Ve skute\u010dnosti m\u00e1 albinismus cel\u00e9 spektrum projev\u016f a n\u011bkdy ho dokonce nen\u00ed na prvn\u00ed pohled snadn\u00e9 rozpoznat. <strong>A pr\u00e1v\u011b okulokut\u00e1nn\u00ed albinismus typu 2 pat\u0159\u00ed k jedn\u00e9 z m\u00e9n\u011b n\u00e1padn\u00fdch forem. <\/strong>Jedn\u00e1 se o vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed a na rozd\u00edl od obecn\u011b zn\u00e1m\u011bj\u0161\u00edho okulokut\u00e1nn\u00edho albinismu typu 2 m\u00e1 m\u00edrn\u011bj\u0161\u00ed projevy.<\/em><\/p>\n\n\n\n<p>Za vznik tohoto onemocn\u011bn\u00ed je zodpov\u011bdn\u00e1 mutace <strong>v genu OCA2<\/strong>. Ta m\u00e1 za n\u00e1sledek <strong>sn\u00ed\u017eenou tvorbu enzymu zvan\u00e9ho tyrozin\u00e1za<\/strong>, kter\u00fd je d\u016fle\u017eit\u00fd p\u0159i tvorb\u011b melaninu. U lid\u00ed s okulokut\u00e1nn\u00edm albinismem typu 2 se tyrozin\u00e1zy tvo\u0159\u00ed m\u00e9n\u011b nebo m\u00e1 zhor\u0161enou funkci, ale st\u00e1le je p\u0159\u00edtomna. Proto se tento druh albinismu naz\u00fdv\u00e1 tak\u00e9 \u201etyrosin\u00e1za pozitivn\u00ed\u201c. Enzym tyrosin\u00e1za je d\u016fle\u017eit\u00fd pro tvorbu melaninu, hn\u011bd\u00e9ho pigmentu, kter\u00fd se v lidsk\u00e9m t\u011ble p\u0159irozen\u011b vyskytuje v k\u016f\u017ei, vlasech nebo o\u010dn\u00ed duhovce. Jeho hlavn\u00ed funkc\u00ed je ochrana p\u0159ed \u0161kodliv\u00fdm UV z\u00e1\u0159en\u00edm, \u010d\u00edm\u017e chr\u00e1n\u00ed bun\u011b\u010dnou DNA p\u0159ed po\u0161kozen\u00edm. Proto maj\u00ed lid\u00e9 s v\u011bt\u0161\u00edm mno\u017estv\u00edm melaninu (tmav\u0161\u00ed poko\u017eka) p\u0159irozen\u011b vy\u0161\u0161\u00ed ochranu p\u0159ed sluncem. U lid\u00ed s t\u00edmto typem albinismu je p\u0159\u00edtomno men\u0161\u00ed mno\u017estv\u00ed melaninu nebo nem\u00e1 standardn\u00ed hn\u011bdou, ale \u017elutou barvu.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>P\u0159\u00edznaky onemocn\u011bn\u00ed<\/strong><\/h2>\n\n\n\n<p>Projevy tohoto onemocn\u011bn\u00ed mohou b\u00fdt r\u016fznorod\u00e9, mezi nej\u010dast\u011bj\u0161\u00ed v\u0161ak pat\u0159\u00ed:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>sn\u00ed\u017een\u00e1 pigmentace k\u016f\u017ee od velmi sv\u011btl\u00e9 a\u017e po norm\u00e1ln\u00ed,<\/li>\n\n\n\n<li>probl\u00e9my se zrakem, v\u010detn\u011b citlivosti na sv\u011btlo, sn\u00ed\u017een\u00e9 ostrosti vid\u011bn\u00ed nebo \u0161ilh\u00e1n\u00ed,<\/li>\n\n\n\n<li>citlivost na slunce a n\u00e1chylnost ke sp\u00e1len\u00ed k\u016f\u017ee, v d\u016fsledku \u010deho\u017e vznik\u00e1 vy\u0161\u0161\u00ed riziko v\u00fdskytu rakoviny k\u016f\u017ee.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong><strong>Jak a u koho m\u016f\u017ee vzniknout okulokut\u00e1nn\u00ed albinismus typu 2?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p>Toto genetick\u00e9 onemocn\u011bn\u00ed je autozom\u00e1ln\u011b recesivn\u00ed. Aby se tedy u jedince toto onemocn\u011bn\u00ed projevilo, mus\u00ed zd\u011bdit mutovan\u00fd gen od obou sv\u00fdch rodi\u010d\u016f. Rodi\u010de z\u00e1rove\u0148 mohou b\u00fdt zcela bez p\u0159\u00edznak\u016f a jsou pouze tzv. nositeli onemocn\u011bn\u00ed, o \u010dem\u017e nemus\u00ed v\u016fbec v\u011bd\u011bt.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>K \u010demu je u\u017eite\u010dn\u00e9 zn\u00e1t tuto predispozici?<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p>Vzhledem k tomu, \u017ee okulokut\u00e1nn\u00ed albinismus typu 2 je v\u00fdlu\u010dn\u011b geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed, strava, \u017eivotn\u00ed styl ani pravideln\u00e1 sportovn\u00ed aktivita nemaj\u00ed na rozvoj tohoto onemocn\u011bn\u00ed \u017e\u00e1dn\u00fd vliv. V\u011bdom\u00ed o t\u00e9to predispozici v\u0161ak m\u016f\u017ee pomoci p\u0159i pl\u00e1nov\u00e1n\u00ed rodiny a z\u00e1rove\u0148 umo\u017e\u0148uje p\u0159ijmout opat\u0159en\u00ed, jako je nap\u0159\u00edklad zv\u00fd\u0161en\u00e1 ochrana p\u0159ed slune\u010dn\u00edm z\u00e1\u0159en\u00edm, kter\u00e1 mohou zm\u00edrnit komplikace zp\u016fsoben\u00e9 t\u00edmto onemocn\u011bn\u00edm.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>Nov\u00fd v\u00fdsledek <strong>ve va\u0161\u00ed DNA anal\u00fdze<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p>\u010c\u00edm v\u00edce informac\u00ed o sv\u00e9 DNA zn\u00e1te, t\u00edm l\u00e9pe m\u016f\u017eete p\u0159izp\u016fsobit sv\u016fj \u017eivotn\u00ed styl tomu, co va\u0161e t\u011blo skute\u010dn\u011b pot\u0159ebuje, abyste se c\u00edtili dob\u0159e.<\/p>\n\n\n\n<p><a href=\"https:\/\/app.dnaera.com\/sign-in?&amp;lng=cz\">P\u0159ihlaste se<\/a> ke sv\u00fdm v\u00fdsledk\u016fm. Informace o statusu p\u0159ena\u0161e\u010de okulokut\u00e1nn\u00edho albinismu typu 2 je od nyn\u011bj\u0161ka zdarma k dispozici pro v\u0161echny na\u0161e z\u00e1kazn\u00edky. Z\u00e1rove\u0148 ji bude m\u00edt ve sv\u00e9 anal\u00fdze ka\u017ed\u00fd budouc\u00ed z\u00e1kazn\u00edk, kter\u00fd vstoup\u00ed do sv\u011bta DNA s <a href=\"https:\/\/dnaera.com\/cs\/produkt\/dna-complex-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Complex testem<\/a>. Zjist\u011bte o sob\u011b v\u00edce i vy.<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading has-medium-font-size\"><strong><strong>Zdroje<\/strong><\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list has-small-font-size\">\n<li class=\"has-small-font-size\">Oetting, W.S. and King, R.A. (1999), Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Hum. Mutat., 13: 99-115.&nbsp;<\/li>\n\n\n\n<li class=\"has-small-font-size\">Chiang, P. W., Spector, E., &amp; Tsai, A. C. (2008). Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. American journal of medical genetics. Part A, 146A(11), 1493\u20131496.<\/li>\n\n\n\n<li class=\"has-small-font-size\">Mengel-From, J., B\u00f8rsting, C., Sanchez, J. J., Eiberg, H., &amp; Morling, N. (2010). Human eye colour and HERC2, OCA2 and MATP. Forensic science international. Genetics, 4(5), 323\u2013328.<\/li>\n\n\n\n<li class=\"has-small-font-size\"><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/79432\">https:\/\/www.orpha.net\/en\/disease\/detail\/79432<\/a><\/li>\n\n\n\n<li class=\"has-small-font-size\"><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/4038\/oculocutaneous-albinism-type-2\">https:\/\/rarediseases.info.nih.gov\/diseases\/4038\/oculocutaneous-albinism-type-2<\/a><\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Se slovem albinismus se jist\u011b setkal ka\u017ed\u00fd z n\u00e1s. N\u011bkdo si mo\u017en\u00e1 p\u0159edstav\u00ed b\u00edlou my\u0161 s \u010derven\u00fdma o\u010dima nebo \u010dlov\u011bka s b\u00edlou poko\u017ekou i vlasy a velmi sv\u011btl\u00fdma o\u010dima. Ve skute\u010dnosti m\u00e1 albinismus cel\u00e9 spektrum projev\u016f a n\u011bkdy ho dokonce nen\u00ed na prvn\u00ed pohled snadn\u00e9 rozpoznat. A pr\u00e1v\u011b okulokut\u00e1nn\u00ed albinismus typu 2 pat\u0159\u00ed k jedn\u00e9 [&hellip;]<\/p>\n","protected":false},"author":876,"featured_media":1384095,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":"[]"},"categories":[33],"tags":[58,59,100],"place-taxonomy":[84],"class_list":["post-1384094","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-cs","tag-dna-analyza","tag-dna-test","tag-predispozice"],"acf":[],"views":2704,"_links":{"self":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384094","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/users\/876"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/comments?post=1384094"}],"version-history":[{"count":3,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384094\/revisions"}],"predecessor-version":[{"id":1384119,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384094\/revisions\/1384119"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media\/1384095"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media?parent=1384094"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/categories?post=1384094"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/tags?post=1384094"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1384094"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}