JAK2V617F
JAK2V617F is a specific genetic mutation found in the JAK2 gene, which is involved in the regulation of cell growth and differentiation. This mutation is most commonly associated with polycythemia vera (PV), a type of myeloproliferative neoplasm characterized by an abnormal increase in red blood cells. The JAK2V617F mutation results from a single nucleotide polymorphism (SNP) that leads to a valine-to-phenylalanine substitution at position 617 of the JAK2 protein. This mutation is considered a gain-of-function mutation, meaning it causes the JAK2 protein to be more active than normal, leading to uncontrolled cell proliferation.
The JAK2V617F mutation is also found in other myeloproliferative neoplasms, including essential thrombocythemia (ET) and primary
The diagnosis of JAK2V617F mutation is typically made through genetic testing, such as polymerase chain reaction