{"id":547,"date":"2020-07-01T07:30:52","date_gmt":"2020-07-01T04:30:52","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=547"},"modified":"2025-12-17T14:57:15","modified_gmt":"2025-12-17T12:57:15","slug":"jaannoshyperlipidemia","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/jaannoshyperlipidemia\/","title":{"rendered":"J\u00e4\u00e4nn\u00f6shyperlipidemia"},"content":{"rendered":"<p class=\"genediag_paragraph\">J\u00e4\u00e4nn\u00f6shyperlipidemiassa (tyypin III hyperlipidemia) sek\u00e4 seerumin kolesterolin ett\u00e4 triglyseridien tasot ovat kohonneet ja HDL-kolesterolin taso on pienentynyt. N\u00e4m\u00e4 muutokset selitt\u00e4v\u00e4t kylomikronien j\u00e4\u00e4nn\u00f6spartikkelit, runsaskolesterolinen VLDL, ja osin my\u00f6s IDL. J\u00e4\u00e4nn\u00f6spartikkelien poistuminen verenkierrosta on normaalia hitaampaa. P\u00e4\u00e4asiallisin syy t\u00e4h\u00e4n on j\u00e4\u00e4nn\u00f6spartikkeleissa oleva apolipoproteiini E2, jonka sitoutuminen LDL-apoB-reseptoriin on huonompi kuin apolipoproteiinien E3 ja E4. J\u00e4\u00e4nn\u00f6shyperlipidemiaan liittyy ksantomatoosi ja valtimoiden ateroskleroosi. Varhainen sepelvaltimotauti on tavallinen ilmenemismuoto, ja my\u00f6s tyypin 2 diabetes esiintyy normaalia useammin n\u00e4ill\u00e4 potilailla.<\/p>\n<p>Diagnoosi voidaan varmentaa kahden apolipoproteiini E -geenivariantin tutkimuksella:<\/p>\n<ul>\n<li class=\"genediag_paragraph\">Cys130Arg (hg19-chr19:45411941,\u00a0<em>APOE<\/em>, c.388T&gt;C, NM_001302689.1, rs429358)<\/li>\n<li class=\"genediag_paragraph\">Arg176Cys (hg19-chr19:45412079,\u00a0<em>APOE,\u00a0<\/em>c.526C&gt;T, NM_001302689.1, rs7412)<\/li>\n<\/ul>\n<p class=\"genediag_paragraph\">Apolipoproteiini E2\/E2 homotsygoottimuoto yhdess\u00e4 edell\u00e4 kuvatun lipidil\u00f6yd\u00f6ksen kanssa on diagnostinen.<\/p>\n<p>Tutkimus kattaa Apolipoproteini E:n genotyypityksen tai koko geenin koodaavien alueiden sekvensoinnin.<\/p>\n<p>Genotyypitys tehd\u00e4\u00e4n TaqMan-menetelm\u00e4ll\u00e4. Geenin koodaavan alueen sekvensointiin k\u00e4ytet\u00e4\u00e4n uuden sukupolven sekvensointia (Next Generation Sequencing, NGS) tai perinteist\u00e4 kapillaarisekvensointia.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>J\u00e4\u00e4nn\u00f6shyperlipidemiassa (tyypin III hyperlipidemia) sek\u00e4 seerumin kolesterolin ett\u00e4 triglyseridien tasot ovat kohonneet ja HDL-kolesterolin taso on pienentynyt. N\u00e4m\u00e4 muutokset selitt\u00e4v\u00e4t kylomikronien j\u00e4\u00e4nn\u00f6spartikkelit, runsaskolesterolinen VLDL, ja osin my\u00f6s IDL. J\u00e4\u00e4nn\u00f6spartikkelien poistuminen verenkierrosta on normaalia hitaampaa. P\u00e4\u00e4asiallisin syy t\u00e4h\u00e4n on j\u00e4\u00e4nn\u00f6spartikkeleissa oleva apolipoproteiini E2, jonka sitoutuminen LDL-apoB-reseptoriin on huonompi kuin apolipoproteiinien E3 ja E4. J\u00e4\u00e4nn\u00f6shyperlipidemiaan liittyy ksantomatoosi [&hellip;]<\/p>\n","protected":false},"author":203,"featured_media":511,"parent":137,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-547","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>J\u00e4\u00e4nn\u00f6shyperlipidemia - Geenidiagnostiikka<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/jaannoshyperlipidemia\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"J\u00e4\u00e4nn\u00f6shyperlipidemia - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"J\u00e4\u00e4nn\u00f6shyperlipidemiassa (tyypin III hyperlipidemia) sek\u00e4 seerumin kolesterolin ett\u00e4 triglyseridien tasot ovat kohonneet ja HDL-kolesterolin taso on pienentynyt. N\u00e4m\u00e4 muutokset selitt\u00e4v\u00e4t kylomikronien j\u00e4\u00e4nn\u00f6spartikkelit, runsaskolesterolinen VLDL, ja osin my\u00f6s IDL. J\u00e4\u00e4nn\u00f6spartikkelien poistuminen verenkierrosta on normaalia hitaampaa. P\u00e4\u00e4asiallisin syy t\u00e4h\u00e4n on j\u00e4\u00e4nn\u00f6spartikkeleissa oleva apolipoproteiini E2, jonka sitoutuminen LDL-apoB-reseptoriin on huonompi kuin apolipoproteiinien E3 ja E4. 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