JAK 2 (Val617Phe (G>T)) by PCR
JAK 2 is the protein kinases subclass enzyme named as "Janus kinase" because of two active sites (domains) similar in structure but opposite in function. The activated enzyme binds to signaling proteins that penetrate the nucleus and transmit a signal on the multiplication and differentiation of hematopoietic cells. The excess of them causes the increase in number of cells of one or more hematopoietic sprouts, thereby affecting the human hematopoietic system. Polymorphism (change) is investigated in order to identify the spontaneous somatic mutation causing the pathological changes in the hematopoietic system.
Potential genotypes:
GG - no violations found
GT - mutation revealed