{"id":9948,"date":"2020-04-23T03:52:06","date_gmt":"2020-04-23T00:52:06","guid":{"rendered":"https:\/\/www.synevo.ro\/product\/gena-mthfr-mutatii-c677ta1298c-risc-trombofilie\/"},"modified":"2025-07-01T07:56:20","modified_gmt":"2025-07-01T04:56:20","slug":"gena-mthfr-mutatii-c677t-a1298c-risc-trombofilie","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/gena-mthfr-mutatii-c677t-a1298c-risc-trombofilie\/","title":{"rendered":"\u0413\u0435\u043d MTHFR (\u043c\u0443\u0442\u0430\u0446\u0438\u0438 C677T; A1298C) \u2013 \u0440\u0438\u0441\u043a \u0442\u0440\u043e\u043c\u0431\u043e\u0444\u0438\u043b\u0438\u0438"},"content":{"rendered":"<p><strong><em>\u041e\u0431\u0449\u0430\u044f \u0438\u043d\u0444\u043e\u0440\u043c\u0430\u0446\u0438\u044f <\/em><\/strong><\/p>\n<p>MTHFR (metilentetrahidrofolat reductaza) este o enzima care catalizeaza reducerea 5,10-methylenetetrahidrofolatului la 5-methylenetetrahidrofolat, un cofactor in remetilarea homocisteinei la metionina<sup>2<\/sup>.<\/p>\n<p>In 1998 a fost descrisa o varianta enzimatica denumita \u201etermolabila\u201d datorita instabilitatii termice <em>in vitro <\/em>care a fost asociata cu un risc crescut de boala coronariana. Aceasta varianta rezulta ca urmare a unei mutatii punctiforme la nivelul genei MTHFR (C677T) si este cu 20% mai putin eficienta in metabolizarea homocisteinei, ceea ce poate conduce la hiperhomocisteinemie, mai ales la persoanele cu un deficit de folati<sup>2;<\/sup><sup>4<\/sup>. Se raporteaza o incidenta de 11% in populatia caucaziana a statusului homozigot pentru aceasta mutatie asociat cu risc crescut de a dezvolta hiperhomocisteinemie si anumite complicatii ale sarcinii ce includ anomalii cromozomiale, malformatii congenitale, pierderi recurente de sarcina, afectiuni ale placentei si preeclampsie<sup>2;5<\/sup>. Mai mult, pe langa consecintele asupra embrionului sau fatului in prima parte a sarcinii, hiperhomocisteinemia si statusul homozigot pentru mutatia C677T sunt implicate si in fenomenele tromboembolice survenite tardiv in sarcina si chiar in perioada post-partum<sup>5<\/sup>.<\/p>\n<p>Pacientii care sunt heterozigoti pentru aceasta mutatie nu prezinta hiperhomocisteinemie sau un risc crescut de evenimente trombotice.<\/p>\n<p>La nivelul genei MTHFR a mai fost descrisa o mutatie destul de frecventa in populatie \u2013 A1298C. Aceasta mutatie nu se asociaza cu hiperhomocisteinemie (indiferent de statusul heterozigot sau homozigot), insa statusul heterozigot combinat pentru cele 2 mutatii MTHFR poate genera manifestari clinice similare cu cele induse de statusul homozigot pentru mutatia C677T.<\/p>\n<p>De asemenea, unele studii au aratat ca statusul homozigot pentru mutatia C677T confera un risc de 2-3 ori mai mare pentru defecte de tub neural cum ar fi spina bifida si anencefalie in comparatie cu persoanele care nu prezinta aceasta mutatie, iar statusul heterozigot combinat pentru C677T si A1298C constituie de asemenea un factor de risc pentru defectele de tub neural<sup>4<\/sup>.<\/p>\n<p>Mecanismul prin care mutatiile MTHFR produc complicatii ale sarcinii este insuficient cunoscut. O ipoteza ar fi legata de hiperhomocisteinemia asociata care determina afectarea endoteliului vascular si conduce la tromboembolism venos si insuficenta placentara. Au fost descrise insa cazuri de pierderi recurente de sarcina asociate cu status homozigot pentru mutatia C677T in care nivelurile de homocisteina s-au incadrate in limitele normalului, ceea ce sugereaza existenta unui mecanism independent de hiperhomocisteinemie<sup>2<\/sup>.<\/p>\n<p>In singurul studiu publicat despre rezultatele tratamentului pacientelor cu avorturi spontane recurente si trombofilie (12% cu mutatie MTHFR) s-a raportat o rata de succes de 94% in obtinerea unei sarcini duse la termen in urma terapiei anticoagulante profilactice (heparina cu greutate moleculara mica) ceea ce justifica testarea pentru defecte trombofilice a acestei categorii de paciente<sup>1<\/sup>.<\/p>\n<p><strong><em>Recomandari pentru analiza mutatiilor MTHFR<\/em><\/strong> \u2013 hiperhomocisteinemie, avorturi spontane recurente, tromboze recurente<sup>4<\/sup>.<\/p>\n<p><strong><em>Specimen recoltat<\/em><\/strong> \u2013 sange venos<sup>3<\/sup>.<\/p>\n<p><strong><em>Recipient de recoltare<\/em><\/strong> \u2013 vacutainer ce contine EDTA ca anticoagulant<sup>3<\/sup>.<\/p>\n<p><strong><em>Cantitate recoltata <\/em><\/strong>\u2013 cat permite vacuumul<sup>3<\/sup>.<\/p>\n<p><strong><em>Cauze de respingere<\/em><\/strong> <strong><em>a probei <\/em><\/strong>\u2013 folosirea heparinei ca anticoagulant<sup>3<\/sup>.<\/p>\n<p><strong><em>Stabilitate proba<\/em><\/strong> - <em>7 zile<\/em> la 2-8\u00baC<sup>3<\/sup>.<\/p>\n<p><strong><em>Metoda <\/em><\/strong>- <span style=\"text-decoration: underline;\">Real-time PCR (LightCycler)<\/span>: reactie de polimerizare in lant cu detectie in timp real a produsului PCR\u00a0 acumulat, prin masurarea fluorescentei emise; la sfarsitul ciclurilor de amplificare se efectueaza genotiparea, prin analiza curbei de topire<sup>3<\/sup>.<\/p>\n<p><strong><em>Valori de referinta<\/em><\/strong><\/p>\n<p style=\"padding-left: 30px;\">Mutatie C677T negativa<\/p>\n<p style=\"padding-left: 30px;\">Mutatie A1298C negativa<\/p>\n<p>In cazul unui rezultat pozitiv se va comunica statusul homozigot sau heterozigot pentru mutatia respectiva<sup>3<\/sup>.<\/p>\n<p style=\"text-align: center;\"><span style=\"font-size: small;\">\u0411\u0438\u0431\u043b\u0438\u043e\u0433\u0440\u0430\u0444\u0438\u044f<\/span><\/p>\n<p><span style=\"font-size: small;\">1. Altomare I., Aledort L.M. MTHFR C677T Homozygosity and Recurrent Fetal Loss. In J Thromb Haemost 2007; 5 Supplement 2: P-S-621.<\/span><\/p>\n<p><span style=\"font-size: small;\">2. Ivy Altomare, Alan Adler, and Louis M Aledort. The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature. In Thromb. J. 2007: 5:17.<\/span><\/p>\n<p><span style=\"font-size: small;\">3. Laborator Synevo. Referinte specifice tehnologiei de lucru utilizate 2008. Ref Type: Catalog.<\/span><\/p>\n<p><span style=\"font-size: small;\">4. Laboratory Corporation of America.Directory of Services and Interpretive Guide. Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis. www.labcorp.com 2007. Ref Type: Internet Communication.<\/span><\/p>\n<p><span style=\"font-size: small;\">5. Willianne L.D.M. Nelen and Henk J. Blom. Pregnancy Complications. In MTHFR Polymorphisms and Disease. Edited by: Per Magne Ueland, 2005.<\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>\u041c\u0422\u041dFR (\u043c\u0435\u0442\u0438\u043b\u0435\u043d\u0442\u0435\u0442\u0440\u0430\u0433\u0438\u0434\u0440\u043e\u0444\u043e\u043b\u0430\u0442\u0440\u0435\u0434\u0443\u043a\u0442\u0430\u0437\u0430) \u2013 \u0432\u043d\u0443\u0442\u0440\u0438\u043a\u043b\u0435\u0442\u043e\u0447\u043d\u044b\u0439 \u0444\u0435\u0440\u043c\u0435\u043d\u0442, \u0443\u0447\u0430\u0441\u0442\u0432\u0443\u044e\u0449\u0438\u0439 \u0432 \u043f\u0440\u0435\u0432\u0440\u0430\u0449\u0435\u043d\u0438\u0438 \u0433\u043e\u043c\u043e\u0446\u0438\u0441\u0442\u0435\u0438\u043d\u0430 \u0432 \u043c\u0435\u0442\u0438\u043e\u043d\u0438\u043d \u0432 \u043f\u0440\u0438\u0441\u0443\u0442\u0441\u0442\u0432\u0438\u0438 \u043a\u043e\u0444\u0430\u043a\u0442\u043e\u0440\u043e\u0432 \u2013 \u043f\u0438\u0440\u0438\u0434\u043e\u043a\u0441\u0438\u043d\u0430 (\u0432\u0438\u0442\u0430\u043c\u0438\u043d\u0430 \u04126) \u0438 \u0446\u0438\u0430\u043d\u043e\u043a\u043e\u0431\u0430\u043b\u0430\u043c\u0438\u043d\u0430 (\u0432\u0438\u0442\u0430\u043c\u0438\u043d\u0430 \u041212) \u2013 \u0438 \u0441\u0443\u0431\u0441\u0442\u0440\u0430\u0442\u0430 \u2013 \u0444\u043e\u043b\u0438\u0435\u0432\u043e\u0439 \u043a\u0438\u0441\u043b\u043e\u0442\u044b. \u0410\u043a\u0442\u0438\u0432\u043d\u043e\u0441\u0442\u044c \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430 \u043c\u043e\u0436\u0435\u0442 \u0441\u043d\u0438\u0436\u0430\u0442\u044c\u0441\u044f \u0432 \u0440\u0435\u0437\u0443\u043b\u044c\u0442\u0430\u0442\u0435 \u043d\u0443\u043a\u043b\u0435\u043e\u0442\u0438\u0434\u043d\u044b\u0445 \u0437\u0430\u043c\u0435\u043d \u0432 \u043a\u043e\u0434\u0438\u0440\u0443\u044e\u0449\u0435\u043c \u0435\u0433\u043e \u0433\u0435\u043d\u0435. \u0412\u0441\u043b\u0435\u0434\u0441\u0442\u0432\u0438\u0435 \u044d\u0442\u043e\u0433\u043e \u043d\u0430\u0440\u0443\u0448\u0430\u0435\u0442\u0441\u044f \u043c\u0435\u0442\u0430\u0431\u043e\u043b\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u043f\u0443\u0442\u044c \u043f\u0440\u0435\u0432\u0440\u0430\u0449\u0435\u043d\u0438\u044f \u0433\u043e\u043c\u043e\u0446\u0438\u0441\u0442\u0435\u0438\u043d\u0430 \u0438 \u0435\u0433\u043e \u0441\u043e\u0434\u0435\u0440\u0436\u0430\u043d\u0438\u0435 \u0432 \u043f\u043b\u0430\u0437\u043c\u0435 \u043a\u0440\u043e\u0432\u0438 \u0443\u0432\u0435\u043b\u0438\u0447\u0438\u0432\u0430\u0435\u0442\u0441\u044f.<\/p>\n<p>\u0421\u0440\u0435\u0434\u0438 \u0432\u0441\u0435\u0445 \u0438\u0437\u0432\u0435\u0441\u0442\u043d\u044b\u0445 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445 \u043f\u0440\u0438\u0447\u0438\u043d \u0433\u0438\u043f\u0435\u0440\u0433\u043e\u043c\u043e\u0446\u0438\u0441\u0442\u0435\u0438\u043d\u0435\u043c\u0438\u0438 \u043d\u0430\u0438\u0431\u043e\u043b\u0435\u0435 \u0440\u0430\u0441\u043f\u0440\u043e\u0441\u0442\u0440\u0430\u043d\u0435\u043d\u044b \u0437\u0430\u043c\u0435\u043d\u044b \u0432 \u0433\u0435\u043d\u0435 MTHFR. \u0418\u0437\u0432\u0435\u0441\u0442\u043d\u043e \u043e\u043a\u043e\u043b\u043e \u0434\u0435\u0441\u044f\u0442\u0438 \u0432\u0430\u0440\u0438\u0430\u043d\u0442\u043e\u0432 \u044d\u0442\u043e\u0433\u043e \u0433\u0435\u043d\u0430, \u0432\u043b\u0438\u044f\u044e\u0449\u0438\u0445 \u043d\u0430 \u0438\u0437\u043c\u0435\u043d\u0435\u043d\u0438\u0435 \u0444\u0443\u043d\u043a\u0446\u0438\u0438 \u043a\u043e\u0434\u0438\u0440\u0443\u0435\u043c\u043e\u0433\u043e \u0438\u043c \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430.<\/p>\n<p>\u0421\u0430\u043c\u044b\u043c \u0438\u0437\u0443\u0447\u0435\u043d\u043d\u044b\u043c \u044f\u0432\u043b\u044f\u0435\u0442\u0441\u044f \u0432\u0430\u0440\u0438\u0430\u043d\u0442, \u0432 \u043a\u043e\u0442\u043e\u0440\u043e\u043c \u0446\u0438\u0442\u043e\u0437\u0438\u043d (\u0421) \u0432 \u043f\u043e\u0437\u0438\u0446\u0438\u0438 677 \u0437\u0430\u043c\u0435\u043d\u0435\u043d \u043d\u0430 \u0442\u0438\u043c\u0438\u043d (T). \u0422\u0430\u043a\u043e\u0439 \u043f\u043e\u043b\u0438\u043c\u043e\u0440\u0444\u0438\u0437\u043c MTHFR \u043e\u0431\u043e\u0437\u043d\u0430\u0447\u0430\u0435\u0442\u0441\u044f \u043a\u0430\u043a C677\u0422 \u0438 \u0441\u043e\u043f\u0440\u043e\u0432\u043e\u0436\u0434\u0430\u0435\u0442\u0441\u044f \u043f\u043e\u0432\u044b\u0448\u0435\u043d\u0438\u0435\u043c \u0443\u0440\u043e\u0432\u043d\u044f \u0433\u043e\u043c\u043e\u0446\u0438\u0441\u0442\u0435\u0438\u043d\u0430 \u0432 \u043a\u0440\u043e\u0432\u0438.<\/p>\n<p>\u0414\u0440\u0443\u0433\u0438\u043c \u0432\u0430\u0440\u0438\u0430\u043d\u0442\u043e\u043c \u043f\u043e\u043b\u0438\u043c\u043e\u0440\u0444\u0438\u0437\u043c\u0430 \u0433\u0435\u043d\u0430 MTHFR \u044f\u0432\u043b\u044f\u0435\u0442\u0441\u044f \u0437\u0430\u043c\u0435\u043d\u0430 \u043d\u0443\u043a\u043b\u0435\u043e\u0442\u0438\u0434\u0430 \u0430\u0434\u0435\u043d\u0438\u043d\u0430 (A) \u043d\u0430 \u0446\u0438\u0442\u043e\u0437\u0438\u043d (\u0421) \u0432 \u043f\u043e\u0437\u0438\u0446\u0438\u0438 1298, \u043f\u0440\u0438\u0432\u043e\u0434\u044f\u0449\u0430\u044f \u043a \u0438\u0437\u043c\u0435\u043d\u0435\u043d\u0438\u044e \u0441\u0442\u0440\u0443\u043a\u0442\u0443\u0440\u044b \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430, \u0432 \u043a\u043e\u0442\u043e\u0440\u043e\u043c \u0433\u043b\u0443\u0442\u0430\u043c\u0438\u043d\u043e\u0432\u0430\u044f \u043a\u0438\u0441\u043b\u043e\u0442\u0430 \u0432 \u043f\u043e\u0437\u0438\u0446\u0438\u0438 429 \u043c\u0435\u043d\u044f\u0435\u0442\u0441\u044f \u043d\u0430 \u0430\u043b\u0430\u043d\u0438\u043d. \u0414\u0430\u043d\u043d\u0430\u044f \u0437\u0430\u043c\u0435\u043d\u0430 \u043f\u0440\u0438\u0432\u043e\u0434\u0438\u0442 \u043a \u0441\u043d\u0438\u0436\u0435\u043d\u0438\u044e \u0430\u043a\u0442\u0438\u0432\u043d\u043e\u0441\u0442\u0438 \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430, \u0431\u043e\u043b\u0435\u0435 \u0432\u044b\u0440\u0430\u0436\u0435\u043d\u043d\u043e\u043c\u0443 \u0443 \u043d\u043e\u0441\u0438\u0442\u0435\u043b\u0435\u0439 \u0434\u0432\u0443\u0445 \u0430\u043b\u043b\u0435\u043b\u0435\u0439 1298\u0421 (\u0433\u0435\u043d\u043e\u0442\u0438\u043f \u0421\/\u0421). \u0411\u0438\u043e\u0445\u0438\u043c\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u0445\u0430\u0440\u0430\u043a\u0442\u0435\u0440\u0438\u0441\u0442\u0438\u043a\u0438 \u0438\u0437\u043c\u0435\u043d\u0435\u043d\u043d\u043e\u0433\u043e \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430 \u043d\u0435 \u043e\u0442\u043b\u0438\u0447\u0430\u044e\u0442\u0441\u044f \u043e\u0442 \u0441\u0432\u043e\u0439\u0441\u0442\u0432 \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430 \u0434\u0438\u043a\u043e\u0433\u043e \u0442\u0438\u043f\u0430 (\u043d\u0435\u0438\u0437\u043c\u0435\u043d\u0435\u043d\u043d\u043e\u0433\u043e).<\/p>\n<p>\u041a\u043e\u043c\u0431\u0438\u043d\u0430\u0446\u0438\u044f \u0433\u0435\u043d\u043e\u0442\u0438\u043f\u043e\u0432 677 \u0421\/T \u0438 1298 \u0410\/C \u0441\u043e\u043f\u0440\u043e\u0432\u043e\u0436\u0434\u0430\u0435\u0442\u0441\u044f \u043d\u0435 \u0442\u043e\u043b\u044c\u043a\u043e \u0441\u043d\u0438\u0436\u0435\u043d\u0438\u0435\u043c \u0430\u043a\u0442\u0438\u0432\u043d\u043e\u0441\u0442\u0438 \u0444\u0435\u0440\u043c\u0435\u043d\u0442\u0430, \u043d\u043e \u0438 \u043f\u043e\u0432\u044b\u0448\u0435\u043d\u0438\u0435\u043c \u043a\u043e\u043d\u0446\u0435\u043d\u0442\u0440\u0430\u0446\u0438\u0438 \u0433\u043e\u043c\u043e\u0446\u0438\u0441\u0442\u0435\u0438\u043d\u0430 \u0432 \u043f\u043b\u0430\u0437\u043c\u0435 \u0438 \u0441\u043d\u0438\u0436\u0435\u043d\u0438\u0435\u043c \u0443\u0440\u043e\u0432\u043d\u044f \u0444\u043e\u043b\u0430\u0442\u0430, \u043a\u0430\u043a \u044d\u0442\u043e \u0431\u044b\u0432\u0430\u0435\u0442 \u043f\u0440\u0438 \u043d\u043e\u0441\u0438\u0442\u0435\u043b\u044c\u0441\u0442\u0432\u0435 \u0434\u0432\u0443\u0445 \u0430\u043b\u043b\u0435\u043b\u0435\u0439 677T. \u041a\u0440\u043e\u043c\u0435 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\u0431\u0443\u043a\u043a\u0430\u043b\u044c\u043d\u044b\u0439 (\u0449\u0435\u0447\u043d\u044b\u0439) \u044d\u043f\u0438\u0442\u0435\u043b\u0438\u0439.<\/p>\n<p><strong>\u041a\u0430\u043a \u043f\u0440\u0430\u0432\u0438\u043b\u044c\u043d\u043e \u043f\u043e\u0434\u0433\u043e\u0442\u043e\u0432\u0438\u0442\u044c\u0441\u044f \u043a \u0438\u0441\u0441\u043b\u0435\u0434\u043e\u0432\u0430\u043d\u0438\u044e? <\/strong>\u0421\u043f\u0435\u0446\u0438\u0430\u043b\u044c\u043d\u043e\u0439 \u043f\u043e\u0434\u0433\u043e\u0442\u043e\u0432\u043a\u0438 \u043d\u0435 \u0442\u0440\u0435\u0431\u0443\u0435\u0442\u0441\u044f.<\/p>","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"product_brand":[],"product_cat":[968,969],"product_tag":[],"class_list":{"0":"post-9948","1":"product","2":"type-product","3":"status-publish","5":"product_cat-teste-de-biologie-moleculara","6":"product_cat-teste-de-genetica-umana","8":"first","9":"instock","10":"sold-individually","11":"shipping-taxable","12":"purchasable","13":"product-type-simple"},"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product\/9948","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/product"}],"replies":[{"embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/comments?post=9948"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=9948"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=9948"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=9948"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=9948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}