Mutant nucleic acid associated with chronic myeloproliferative disorder and method for evaluating chronic myeloproliferative disorder

摘要

The present invention provides a new mutant gene related to the onset of CMPD, particularly a new mutant gene related to the onset of CMPD possessed by a patient who develops CMPD despite being negative for JAK2V617F, and an evaluation method for evaluating CMPD. The possibility of chronic myeloproliferative disease is evaluated by detecting the following mutations in the JAK2 gene or EPOR gene in human-derived biological samples. (A) 2116th G to A mutation in the nucleotide sequence set forth in SEQ ID NO: 1, (b) deletion of nucleotide residues 2121 to 2126 in the nucleotide sequence set forth in SEQ ID NO: 1, ( c) 1641st C mutation to G in the base sequence set forth in SEQ ID NO: 4.