{"id":28386,"date":"2023-01-04T19:11:35","date_gmt":"2023-01-04T17:11:35","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28386"},"modified":"2023-01-09T12:20:15","modified_gmt":"2023-01-09T10:20:15","slug":"spinotserebellaarne-ataksia-12","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/spinotserebellaarne-ataksia-12\/","title":{"rendered":"Spinotserebellaarne ataksia 12"},"content":{"rendered":"

Spinotserebellaarse ataksia t\u00fc\u00fcp 12<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nPPP2R2B<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n
Metoodika:<\/strong><\/td>\nSanger sekveneerimine<\/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

1 \u00b5g DNA-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><\/p>\n

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Patsiendi pereliikmete testimine<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Spinotserebellaarne ataksia t\u00fc\u00fcp 12<\/strong> (SCA12) on I t\u00fc\u00fcpi autosomaalse domineeriva v\u00e4ikeaju ataksia (ADCA I t\u00fc\u00fcp) v\u00e4ga haruldane alat\u00fc\u00fcp. Seda iseloomustab \u00fclaj\u00e4semete aktsioonitreemor, aga ka sellised haigustunnused\/s\u00fcmptomid nagu kerge v\u00e4ikeaju (tserebraalne) d\u00fcsfunktsioon, h\u00fcperrefleksia, parkinsonismi tunnused v\u00f5i kognitiivne d\u00fcsfunktsioon. K\u00f5nnakuh\u00e4ired on tavaliselt kerged v\u00f5i puuduvad. Muude s\u00fcmptomite hulka v\u00f5ivad kuuluda aeglased sakaadid, j\u00e4lgimisliigutuste h\u00e4irumine, horisontaalne n\u00fcstagm, n\u00e4o m\u00fcok\u00fc\u00fcmia ja aksiaalne d\u00fcstoonia. SCA12 on seotud trinukleotiidi (CAG) koopiarvu suurenemisega PPP2R2B geeni (MIM#604325) promootori piirkonnas.<\/p>\n

    *O’Hearn E et al 2001, Srivastava AK et al 2001<\/strong><\/span><\/p>\n

    *Bahl S et al 2005<\/strong><\/span><\/p>\n

    P\u00e4rilikud ataksiad on grupp neuroloogilisi haigusi, millele on iseloomulikud pea- ja seljaaju degeneratiivsed muutused, mille tulemusena kujuneb v\u00e4lja aeglaselt progresseeruv k\u00f5ne, k\u00f5nnaku, silmade- ja k\u00e4teliigutuste koordinatsioonih\u00e4ire. Ataksiad on sageli seotud v\u00e4ikeaju atroofiaga. Haigus v\u00f5ib avalduda vasts\u00fcndinu east t\u00e4iskasvanu eani, s\u00f5ltudes ataksia alat\u00fc\u00fcbist. Hetkel klassifitseeritakse p\u00e4rilikke ataksiaid p\u00e4rilikkuse viisi, haigust p\u00f5hjustava geeni v\u00f5i kromosoomi piirkonna alusel. P\u00e4rilike ataksiate t\u00e4psema liigitamise nimel t\u00f6\u00f6tatakse j\u00e4tkuvalt, kuna paljud alat\u00fc\u00fcbid ja nende fenot\u00fc\u00fcbid kattuvad.<\/p>","protected":false},"excerpt":{"rendered":"

    Spinotserebellaarse ataksia t\u00fc\u00fcp 12 Geenid: PPP2R2B Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 \u00b5g DNA-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 olema detekteeritav \u00fche tervikliku […]<\/p>\n","protected":false},"author":11,"featured_media":0,"parent":14761,"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-28386","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28386","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\/11"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=28386"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28386\/revisions"}],"predecessor-version":[{"id":28643,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28386\/revisions\/28643"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14761"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=28386"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}