{"id":20621,"date":"2017-10-16T08:48:31","date_gmt":"2017-10-16T05:48:31","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=20621"},"modified":"2020-06-01T11:34:44","modified_gmt":"2020-06-01T08:34:44","slug":"huperlipoproteineemia-tuup-iii","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/huperlipoproteineemia-tuup-iii\/","title":{"rendered":"H\u00fcperlipoproteineemia, t\u00fc\u00fcp III"},"content":{"rendered":"

T\u00fc\u00fcp III h\u00fcperlipoproteineemiaga
\nseotud mutatsioonanal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nAPOE<\/i><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (Sanger)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Marker:<\/strong><\/td>\n2<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-materjalile:<\/strong><\/td>\n2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

200 ng\u00a0DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\nDNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav \u00fche tervikliku b\u00e4ndina.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\n\n\n\n
Tellimine:<\/strong><\/td>\nProovimaterjal saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

N\u00e4idustused geenitesti tegemiseks<\/strong>:
\n1. Kliinilise diagnoosi kinnitamine
\n2. Noores eas koronaararteri haiguse esinemine patsiendil v\u00f5i pereliikmel
\n3. Kandluse m\u00e4\u00e4ramine\u00a0teadaoleva mutatsiooni suhtes
\n4. Iseloomulike s\u00fcmptomite, nagu ksantoomid, esinemine
\n5. Geneetiline n\u00f5ustamine<\/p>\n

T\u00fc\u00fcp III h\u00fcperlipoproteineemiale<\/strong> on iseloomulik h\u00fcperlipideemia, mis on p\u00f5hjustatud trigl\u00fctseriidide rikaste lipoproteiinide<\/strong>, nagu k\u00fclomikronid<\/strong> ja v\u00e4ga v\u00e4ikese tihedusega lipoproteiinid<\/strong>, j\u00e4\u00e4kide kuhjumisest. Nende j\u00e4\u00e4kide k\u00f5rge tase soodustab lipiidide ladestumist tuberoossete ksantoomidena, ateroskleroosi, varajasi koronaararterite haigusi ja varajast m\u00fcokardiinfarkti.<\/p>\n

T\u00fc\u00fcp III h\u00fcperlipoproteineemia on seotud homos\u00fcgootsete, liitheteros\u00fcgootsete v\u00f5i heteros\u00fcgootsete mutatsioonidega APOE geenis<\/strong>. Haiguse kujunemise eelduseks on tavaliselt ka keskkonnast tingitud v\u00f5i lisanduvad geneetilised faktorid. Trigl\u00fctseriidide rikaste lipoproteiinide j\u00e4\u00e4kide kuhjumist esineb ca 1:5000 inimese kohta, geenidefekt avaldub u 1% elanikkonnast.<\/p>","protected":false},"excerpt":{"rendered":"

T\u00fc\u00fcp III h\u00fcperlipoproteineemiaga seotud mutatsioonanal\u00fc\u00fcs Geen: APOE Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Marker: 2 Testi valmimisaeg: 2-4 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 200 ng\u00a0DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14537,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-20621","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20621","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=20621"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20621\/revisions"}],"predecessor-version":[{"id":25870,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20621\/revisions\/25870"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14537"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=20621"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}