"K PH-negativn\u00EDm chronick\u00FDm myeloproliferativn\u00EDm onemocn\u011Bn\u00EDm (CMPO) \u0159ad\u00EDme pravou polycytemii (PV), esenci\u00E1ln\u00ED trombocytemii (ET) a prim\u00E1rn\u00ED idiopatickou myelofibr\u00F3zu (IMF). Diagnostika CMPO je obt\u00ED\u017En\u00E1 vzhledem k absenci jednozna\u010Dn\u00FDch diagnostick\u00FDch ukazatel\u016F. Objev bodov\u00E9 mutace V617F v genu JAK2 (JAK2 V617F) u velk\u00E9 \u010D\u00E1sti pacient\u016F s CMPO znamenal velk\u00FD pokrok v pozn\u00E1n\u00ED vzniku onemocn\u011Bn\u00ED a uveden\u00E1 somatick\u00E1 mutace je vyu\u017E\u00EDv\u00E1na v sou\u010Dasnosti jako v\u00FDznamn\u00FD diagnostick\u00FD prost\u0159edek k vylou\u010Den\u00ED sekund\u00E1rn\u00EDch trombocytemi\u00ED nebo erytrocyt\u00F3z. V t\u00E9to pr\u00E1ci je pod\u00E1n p\u0159ehled a srovn\u00E1n\u00ED n\u011Bkter\u00FDch metod molekul\u00E1rn\u00ED biologie, kter\u00E9 nalezly uplatn\u011Bn\u00ED p\u0159i vy\u0161et\u0159en\u00ED JAK2 genu. Jsou uvedeny rovn\u011B\u017E vlastn\u00ED zku\u0161enosti se stanoven\u00EDm mutace JAK2V617F metodou alelick\u00E9 diskriminace a se stanoven\u00EDm alelick\u00E9 z\u00E1t\u011B\u017Ee pomoc\u00ED kvantitativn\u00ED real-time polymer\u00E1zov\u00E9 \u0159et\u011Bzov\u00E9 rekace."@cs . . "Detection of the JAK2 V617F mutation in myeloproliferative disorders - an overview and own experiences"@en . "Detekce mutace JAK2 V617F u myeloproliferativn\u00EDch onemocn\u011Bn\u00ED - p\u0159ehled a vlastn\u00ED zku\u0161enosti" . "K PH-negativn\u00EDm chronick\u00FDm myeloproliferativn\u00EDm onemocn\u011Bn\u00EDm (CMPO) \u0159ad\u00EDme pravou polycytemii (PV), esenci\u00E1ln\u00ED trombocytemii (ET) a prim\u00E1rn\u00ED idiopatickou myelofibr\u00F3zu (IMF). Diagnostika CMPO je obt\u00ED\u017En\u00E1 vzhledem k absenci jednozna\u010Dn\u00FDch diagnostick\u00FDch ukazatel\u016F. Objev bodov\u00E9 mutace V617F v genu JAK2 (JAK2 V617F) u velk\u00E9 \u010D\u00E1sti pacient\u016F s CMPO znamenal velk\u00FD pokrok v pozn\u00E1n\u00ED vzniku onemocn\u011Bn\u00ED a uveden\u00E1 somatick\u00E1 mutace je vyu\u017E\u00EDv\u00E1na v sou\u010Dasnosti jako v\u00FDznamn\u00FD diagnostick\u00FD prost\u0159edek k vylou\u010Den\u00ED sekund\u00E1rn\u00EDch trombocytemi\u00ED nebo erytrocyt\u00F3z. V t\u00E9to pr\u00E1ci je pod\u00E1n p\u0159ehled a srovn\u00E1n\u00ED n\u011Bkter\u00FDch metod molekul\u00E1rn\u00ED biologie, kter\u00E9 nalezly uplatn\u011Bn\u00ED p\u0159i vy\u0161et\u0159en\u00ED JAK2 genu. Jsou uvedeny rovn\u011B\u017E vlastn\u00ED zku\u0161enosti se stanoven\u00EDm mutace JAK2V617F metodou alelick\u00E9 diskriminace a se stanoven\u00EDm alelick\u00E9 z\u00E1t\u011B\u017Ee pomoc\u00ED kvantitativn\u00ED real-time polymer\u00E1zov\u00E9 \u0159et\u011Bzov\u00E9 rekace." . "Detection of the JAK2 V617F mutation in myeloproliferative disorders - an overview and own experiences"@en . "7"^^ . . . . "Doubek, Michael" . "Transfuze a hematologie dnes" . . . "5"^^ . "RIV/65269705:_____/09:#0000779" . "Detekce mutace JAK2 V617F u myeloproliferativn\u00EDch onemocn\u011Bn\u00ED - p\u0159ehled a vlastn\u00ED zku\u0161enosti" . "1213-5763" . "Detekce mutace JAK2 V617F u myeloproliferativn\u00EDch onemocn\u011Bn\u00ED - p\u0159ehled a vlastn\u00ED zku\u0161enosti"@cs . . "4"^^ . . . "V" . "Dvo\u0159\u00E1kov\u00E1, Dana" . "RIV/65269705:_____/09:#0000779!RIV10-MZ0-65269705" . . "CZ - \u010Cesk\u00E1 republika" . "R\u00E1zga, Filip" . . "Mayer, Ji\u0159\u00ED" . "Detekce mutace JAK2 V617F u myeloproliferativn\u00EDch onemocn\u011Bn\u00ED - p\u0159ehled a vlastn\u00ED zku\u0161enosti"@cs . . "myeloproliferative disorders"@en . . "309829" . "15" . "[833D1161EE2C]" . . . "The lack of reliable molecular markers is responsible for difficult detection and monitoring of PH-negative myeloproliferative diseases, such as polycythemia vera, essential thrombocythemia or idiopathic myelofibrosis. In recent years, the V617F point mutation in the JAK2 gene (JAK2V617F) come to be a feasible marker for confirmation and evaluation of such hematology disorders. In this paper we report a review of diagnostic methods developed for investigation of JAK2 gene mutations and we present our experience with detection of JAK2V617F. Two methods (allelic discrimination analysis and real-time polymerase chain reaction for quantitative determination of mutant allele burden) are compared and discussed. We conclude that this detection of JAK2V617F mutant allele burden may be used for establishing possible correlation between clinical symptoms and hematologic abnormalities for paients suffering from myeloproliferative disorders."@en . "3" .