{"id":23433,"date":"2019-01-14T15:39:48","date_gmt":"2019-01-14T13:39:48","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=23433"},"modified":"2021-08-24T13:21:27","modified_gmt":"2021-08-24T10:21:27","slug":"ihtuoosiga-seotud-geenide-sekveneerimine","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dermatology-testid\/ihtuoosiga-seotud-geenide-sekveneerimine\/","title":{"rendered":"Iht\u00fcoosiga seotud geenide sekveneerimine"},"content":{"rendered":"

Iht\u00fcoosiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ATP2A2, ATP2C1, CARD14, CASP14, CDSN, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT2, KRT9, KRT10, LIPN, LORICRIN, MBTPS2, MPLKIP, NIPAL4, NSDHL, PEX7, PHYH, PNPLA1, POMP, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5 <\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (NGS).
\nKoopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n6-9 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>
\n1. Kliinilise diagnoosi kinnitamine
\n2. Mittes\u00fcndroomse iht\u00fcoosi vormide\/alat\u00fc\u00fcpide ja teiste geneetiliselt\/fenot\u00fc\u00fcbiliselt
\nseotud haiguste diferentsiaaldiagnostika
\n3. Prenataalne diagnostika teadaoleva perekondliku mutatsiooni korral
\n4. Geneetiline konsultatsioon<\/p>\n

P\u00e4rilikud iht\u00fcoosid<\/strong> on haruldased geneetilised haigused, mille iseloomulikeks s\u00fcmptomiteks on h\u00fcperkeratoos ja\/v\u00f5i nahaketendus. Selliste s\u00fcmptomite p\u00f5hjuseks on mutatsioonid naha v\u00e4liskihi moodustamisega seotud geenides. P\u00e4rilikel iht\u00fcoosidel on kaks vormi – mittes\u00fcndroomne ja s\u00fcndroomne. Iht\u00fcoosi erinevaid vorme eristatakse j\u00e4rgmiste tunnuste alusel: 1) nahaketenduse ulatus 2) er\u00fcteemi esinemine\/puudumine ja ulatus 3) p\u00e4rilikkuse viis 4) iseloomulikud kaasuvad s\u00fcmptomid. Spetsiifilised s\u00fcmptomid ja nende raskusaste v\u00f5ivad erinevatel inimestel sama haigusvormi piires varieeruda. V\u00f5rreldes teiste mittes\u00fcndroomsete iht\u00fcoosidega on sagedasemate iht\u00fcooside nagu Ichthyosis vulgaris<\/em> ja retsessiivse X-liitelise iht\u00fcoosi puhul t\u00e4heldatud hilisemat avaldumist.<\/p>\n

Test katab p\u00e4rilike mittes\u00fcndroomsete iht\u00fcooside ja mitmete iht\u00fcoosile omaste s\u00fcmptomitega haiguste molekulaargeneetilist anal\u00fc\u00fcsi. Mitmed haigusseoselised geenid on hetkel veel kindlaks tegemata.<\/p>\n

Mittes\u00fcndroomsed iht\u00fcoosid v\u00f5ivad p\u00e4randuda autosoom-dominantsel<\/strong>, autosoom-retsessiivsel<\/strong> v\u00f5i X-liitelisel retsessiivsel<\/strong> teel.<\/p>\n

Iht\u00fcoosid on k\u00f5ikides populatsioonides esinevad haruldased haigused. Esinemissagedus varieerub s\u00f5ltuvalt haiguse t\u00fc\u00fcbist. K\u00f5ige sagedasem on Ichthyosis vulgaris<\/em> sagedusega 1:250-1:1000. X-liitelise retsessiivse iht\u00fcoosi sagedus on 1:2000-1:6000.<\/p>","protected":false},"excerpt":{"rendered":"

Iht\u00fcoosiga seotud geenide sekveneerimine Geen: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ATP2A2, ATP2C1, CARD14, CASP14, CDSN, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT2, KRT9, KRT10, LIPN, LORICRIN, MBTPS2, MPLKIP, NIPAL4, NSDHL, PEX7, PHYH, PNPLA1, POMP, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5 Metoodika: Kodeeriva piirkonna […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":23406,"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-23433","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23433","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=23433"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23433\/revisions"}],"predecessor-version":[{"id":27784,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23433\/revisions\/27784"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23406"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=23433"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}