{"id":13504,"date":"2016-01-05T12:40:27","date_gmt":"2016-01-05T12:40:27","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=13504"},"modified":"2020-08-14T12:34:49","modified_gmt":"2020-08-14T09:34:49","slug":"mehepoolne-viljatus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-reprogenetics-testid-2\/mehepoolne-viljatus\/","title":{"rendered":"Mehepoolse viljatusega seotud geenide sekveneerimine"},"content":{"rendered":"

Mehepoolse viljatusega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAK7, ADGRG2, AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, AXL, BMP4, BNC2, BRDT, CASR, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP69, CFTR, CYP17A1, CYP11B1, DDX25, DMC1, DMRT1, DNAH1, DNAH11, DNAH5, DNAH6, DNAI1, DPY19L2, DUOX1, DUOX2, DUOXA2, FANCM, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXE1, FSHB, FSHR, FSIP2, GCM2, GHR, GLIS3, GNAS, GNRH1, GNRHR, HESX1, HSD3B2, HS6ST1, IGSF1, IL17RD, INSL3, IRS4, IYD, KISS1R, KLHL10, LHB, LHX3, LHX4, LRRC6, MAGEB4, MAMLD1, M1AP, MEI1, MEIOB, NANOS1, NKX2-1, NKX2-5, NLRP14, NR5A1, NR0B1, NSMF, OTX2, PANK2, PAX8, PDE3A, PLCZ1, PMFBP1, POU1F1, PPP2R3C, PROK2, PROKR2, PROP1, QRICH2, RNF212, RSPO1, SECISBP2, SEMA3A , SEPTIN12 (SEPT12), SLC26A4, SLC26A8, SLC5A5, SLC9A3, SOHLH1, SOX10, SOX2, SOX3, SOX8, SOX9, SPATA16, SPINK2, SRA1, SRD5A2, STAG3, STX2, SUN5, SYCE1, SYCP3, TAC3, TACR3, TAF4B, TBL1X, TDRD9, TEX11, TEX14, TEX15, TG, THRA, THRB, TPO, TRH, TRHR, TRIM37, TSGA10, TSHB, TSHR, TTC21A, TTF1, USP26, USP9Y, UTP14C, WDR11, WDR66, XRCC2, ZMYND15<\/em>
\nKlinefelteri s\u00fcndroom (47XXY)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nNGS<\/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 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<\/strong><\/span><\/a> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

AZF deletsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nPCR, geelelektroforees<\/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 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<\/strong><\/span><\/a> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Klinefelteri (47XXY) s\u00fcndroom<\/span><\/h2>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nPCR, geelelektroforees<\/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 olema detekteeritav \u00fche tervikliku b\u00e4ndina.<\/p>\n

P\u00f5sekaape proov\u00a0mosaiiksuse hindamiseks.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

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

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

    \n
  1. \n
      \n
    1. Kliinilise diagnoosi kinnitamine<\/li>\n
    2. Muud viljatust p\u00f5hjustavad tegurid on v\u00e4listatud (keskkonna ja elustiili m\u00f5jutused ning meditsiinilised p\u00f5hjused, milleks v\u00f5ivad olla hormonaalsed h\u00e4ired, infektsioonid, varikotseele)<\/li>\n
    3. Patsiendi kliiniline anamnees viitab s\u00fcndroomile v\u00f5i seisundile, mis on seotud mehepoolse viljatuse geneetiliste p\u00f5hjustega (n\u00e4iteks Klinefelteri s\u00fcndroomile iseloomulikult v\u00e4ikesed testised ja madalam testosterooni tase)<\/li>\n<\/ol>\n<\/li>\n<\/ol>\n

      Viljatus on komplekshaigus, mis haarab suurt osa inimpopulatsioonist, kuid tema etioloogia on siiani paljudel juhtudel ebaselge. Ligikaudu 15-20% last soovivatest paaridest on viljatud ning neist pooltel juhtudel on tegemist mehepoolse viljatusega. Geneetilistest muutustest on tingitud 15-30% meeste viljatuse juhtudest. Sagedasemateks teadaolevateks geneetilisteks p\u00f5hjusteks on autosoomsete ja sugukromosoomide arvu, struktuuri ja \u00fcmberpaiknemise anomaaliad; meiootilised defektid; mikrodeletsioonid Y kromosoomi q11.21-23 piirkonnas; mutatsioonid CFTR geenis ja geneetilised s\u00fcndroomid, mille \u00fcks s\u00fcmptom on viljatus.<\/p>\n

      Viljatute meeste geneetilist tausta uurides on v\u00f5imalik leida viljatuse p\u00f5hjus ja seel\u00e4bi leida viljatuse probleemiga paarile k\u00f5ige efektiivsem ravi.<\/p>","protected":false},"excerpt":{"rendered":"

      Mehepoolse viljatusega seotud geenide sekveneerimine Geenid: AK7, ADGRG2, AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, AXL, BMP4, BNC2, BRDT, CASR, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP69, CFTR, CYP17A1, CYP11B1, DDX25, DMC1, DMRT1, DNAH1, DNAH11, DNAH5, DNAH6, DNAI1, DPY19L2, DUOX1, DUOX2, DUOXA2, FANCM, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXE1, FSHB, FSHR, FSIP2, GCM2, GHR, GLIS3, GNAS, GNRH1, GNRHR, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11436,"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-13504","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/13504","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=13504"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/13504\/revisions"}],"predecessor-version":[{"id":26041,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/13504\/revisions\/26041"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/11436"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=13504"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}