{"id":8496,"date":"2014-07-25T08:56:09","date_gmt":"2014-07-25T07:56:09","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=8496"},"modified":"2021-06-07T16:52:27","modified_gmt":"2021-06-07T13:52:27","slug":"aniriidiaga-seotud-pax6-geeni-sekveneerimine","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/aniriidiaga-seotud-pax6-geeni-sekveneerimine\/","title":{"rendered":"Aniriidia"},"content":{"rendered":"

Aniriidiaga seotud\u00a0<\/span>PAX6<\/em> geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nPAX6<\/em><\/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
Testi valmimisaeg:<\/strong><\/td>\n2-4 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

500 ng DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\nA260\/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\u00a0saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nPAX6, SOX2, WT1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nMLPA<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n4-6 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\nA260\/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\u00a0saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

N\u00e4idustused geenitesti tegemiseks:<\/strong><\/p>\n

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Geneetiline n\u00f5ustamine<\/li>\n
  3. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    Aniriidia<\/b> on haigus, mida iseloomustab silma vikerkesta osaline v\u00f5i t\u00e4ielik puudumine. Haiguse s\u00fcmptomiteks on maakuli h\u00fcpoplaasia, v\u00e4henenud n\u00e4gemisteravus, n\u00fcstagmid, fotofoobia, glaukoom, katarakt ja n\u00e4gemisn\u00e4rvi h\u00fcpoplaasia.<\/p>\n

    Aniriidia v\u00f5ib olla isoleeritud v\u00f5i esineda WAGR<\/strong> (<\/i>Wilms\u00a0tumor, aniridia, genital anomalies and mental retardation)<\/i><\/span> s\u00fcndroomi osana.\u00a0Haiguse sagedus on 1 : 50 000\u00a0\u2013 1 : 100 000.<\/p>\n

    Isoleeritud aniriidia p\u00f5hjuseks on mutatsioonid PAX6<\/strong><\/em> geenis<\/strong> v\u00f5i deletsioon PAX6<\/em> geeni ekspressiooni kontrollivas regulaatoralas. WAGR s\u00fcndroomi p\u00f5hjuseks on 11. kromosoomi l\u00fchikese \u00f5la p13 piirkonna deletsioon. Antud kromosoomi regioonis paiknevad PAX6<\/strong><\/em> ja WT1<\/strong><\/em> geenid. Isoleeritud aniriidia ja WAGR s\u00fcndroom p\u00e4randuvad autosoom-dominantselt.<\/p>","protected":false},"excerpt":{"rendered":"

    Aniriidiaga seotud\u00a0PAX6 geeni sekveneerimine Geenid: PAX6 Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 n\u00e4dalat N\u00f5uded proovi- materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 500 ng DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav \u00fche tervikliku b\u00e4ndina. Tellimine: […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11406,"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-8496","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8496","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=8496"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8496\/revisions"}],"predecessor-version":[{"id":27541,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8496\/revisions\/27541"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/11406"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=8496"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}