Analysis mutasiy V gene MPL, PTSR, kachestvenniy(Analysis of MPL gene mutation, PCR, qualitative

Mutations in the MPL gene are important in the diagnosis and differential diagnosis of myeloproliferative diseases (MPD). One of the reasons for the constitutive activation of the JAK-STAT signal transmission pathway in hematopoietic cells, leading to the development of chronic myeloproliferative neoplasms, is the transformation of the MPL thrombopoietin receptor due to mutations in the MPL gene. As a result of a change in the amino acid in the 515 position of the polypeptide chain, in the intracellular domain of the protein, the receptor is autoactivated, independent of the action of cytokines. Activation of the receptor triggers a cascade of phosphorylation of proteins of the JAK and STAT families involved in signaling for the survival and proliferation of myeloid precursors. Thus, the constant activation of the receptor caused by mutations of the MPL gene causes increased production of mature myeloid cells, mainly platelets.

No special training is required.

Establishment or confirmation of the diagnosis of chronic myeloproliferative neoplasm.

The interpretation of the research results contains information for the attending physician and is not a diagnosis. The information in this section cannot be used for self-diagnosis and self-medication. An accurate diagnosis is made by a doctor using both the results of this examination and the necessary information from other sources: anamnesis, results of other examinations, etc. The form of output of the result: qualitative with clarification of the type of mutation when it is detected. A negative result. MPL (codon 515 mutations) were not detected. A positive result. MPL (codon 515 mutation) detected (W515L).