Determination of the ratio of healthy and mutant forms of human DNA containing the JAK2 V617F mutation by PCR

Abstract The most important criterion in the diagnosis of myeloproliferative diseases is the JAK2 (Janus kinase 2) gene mutation. According to the WHO recommendations, the JAK2 V617F mutation is a marker used for primary and differential diagnosis of these diseases. In this regard, it is relevant to develop a domestic PCR diagnostic kit for the detection of JAK2 V617F by quantitative PCR analysis using fluorescently labeled allele-specific primers. In the presented work, a PCR analysis was developed using a new structure of fluorescently labeled primers to detect the JAK2 V617F mutation and determine the quantitative ratio of mutant and healthy cells, which will allow not only to detect the mutation, but also to determine the effectiveness of treatment