Detekce mutace JAK2 V617F u myeloproliferativních onemocnění - přehled a vlastní zkušenosti
| Title in English | Detection of the JAK2 V617F mutation in myeloproliferative disorders - an overview and own experiences |
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| Authors | |
| Year of publication | 2009 |
| Type | Article in Periodical |
| Magazine / Source | Transfuze a hematologie dnes |
| MU Faculty or unit | |
| Citation | |
| Field | Oncology and hematology |
| Keywords | JAK2 V617F; myeloproliferative disorders; real-time polymerase chain reaction; allelic discrimination; allele burden |
| Description | 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. |
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