[HTML][HTML] Identification of an acquired JAK2 mutation in polycythemia vera

R Zhao, S Xing, Z Li, X Fu, Q Li, SB Krantz… - Journal of Biological …, 2005 - ASBMB
Polycythemia vera (PV) is a human clonal hematological disorder. The molecular etiology of
the disease has not been identified. PV hematopoietic progenitor cells exhibit
hypersensitivity to growth factors and cytokines, suggesting possible abnormalities in protein-
tyrosine kinases and phosphatases. By sequencing the entire coding regions of cDNAs of
candidate enzymes, we identified a G: C→ T: A point mutation of the JAK2 tyrosine kinase in
20 of 24 PV blood samples but none in 12 normal samples. The mutation has varying …