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US 2019/0100807 A1Published application
Compositions and methods for detecting mutations in jak2 nucleic acid
AssigneeQuest Diagnostics Investments Incorporated
InventorsMaher Albitar, Wanlong Ma
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Abstract
The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.
Claims11
1-16. (canceled)
A method for detecting a mutated JAK2 nucleic acid in a sample obtained from a human, comprising:
- (a) contacting the sample with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant JAK2 nucleic acid but not to a wild-type JAK2 nucleic acid and comprises the mutation, wherein the mutation is selected from among group consisting of:
- an adenine to thymine mutation at a nucleotide position corresponding to nucleotide position 2091 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- a thymine to cytosine mutation at a nucleotide position corresponding to nucleotide position 2127 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- a thymine to cytosine mutation at a nucleotide position corresponding to nucleotide position 2133 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- a thymine to guanine mutation at a nucleotide position corresponding to nucleotide position 2160 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- a cytosine to thymine mutation at a nucleotide position corresponding to nucleotide position 2180 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- a cytosine to thymine mutation at a nucleotide position corresponding to nucleotide position 2204 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- and
- an adenine to guanine mutation at a nucleotide position corresponding to nucleotide position 2204 of SEQ ID NO:
- 1 in the JAK2 nucleic acid;
- and
- (b) detecting the mutant JAK2 nucleic acid when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant JAK2 nucleic acid.
15 more elements
Dependencies are inferred from the claim text.