JAK2 V617F mutation [Real-time PCR] **

The Janus Kinase 2 gene (JAK2) provides instructions for cells to produce the JAK2 protein. This protein promotes cell growth and division and is especially important for controlling blood cell production in the bone marrow. The JAK2 V617F mutation is an acquired mutation rather than an inherited one and results in a change in a single DNA nucleotide base pair. In JAK2, this type of mutation, known as a point mutation, replaces the normal amino acid valine (abbreviated V) with phenylalanine (abbreviated F). This amino acid change causes the JAK2 protein to remain continuously “on,” leading to uncontrolled blood cell production.