MPL mutations in JAK2 V617F negative patients with myeloproliferative disease

摘要

The invention provides compositions and methods for diagnosing a patient as having a myeloproliferative disease by identifying mutations in the MPL gene or gene products.

主权项

1. A method of assessing the myeloproliferative disease status of an individual, comprising:
(a) evaluating a sample containing nucleic acids from the individual to detect the presence of one or more mutations in one or both alleles of the MPL gene, said mutation(s) being selected from the group consisting of C1533_G1534 ins 12 and A1618_G1619 del/ins T mutations, wherein evaluating comprises hybridizing to a MPL nucleic acid an oligonucleotide comprising a nucleotide sequence selected from the group consisting of: SEQ ID NO: 12, and SEQ ID NO: 14, and (b) identifying the individual
(i) as having a myeloproliferative disease or being predisposed to a myeloproliferative disease when the individual is homozygous for one of said mutations, or(ii) as being predisposed to a myeloproliferative disease when the individual is heterozygous for one of said mutations.