Methods and compositions for the detection of CALR mutations in myeloproliferative diseases
First Claim
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1. A method for detecting an in-frame deletion mutation in exon 9 of the calreticulin (CALR) gene comprising:
- performing a nucleic acid detection assay on a patient sample to detect a CALR exon 9 in-frame deletion mutation, wherein the mutation is p.E381 _A382>
A, characterized by a deletion of nucleotides 1142-1144 of SEQ ID NO;
1,wherein the patient sample is from a patient that has a myeloproliferative disease or is suspected of having a myeloproliferative disease, wherein the patient is negative for a JAK2 V617F mutation, andwherein the nucleic acid detection assay comprises using a primer pair comprising a forward primer of SEQ ID NO;
10 or 12 and/or a reverse primer of SEQ ID NO;
11 or 13.
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Abstract
Provided herein are methods and compositions for the detection of in-frame deletion germline mutations in the CALR gene. Also provided are methods for determining the prognosis of myeloproliferative diseases and the likelihood of developing somatic mutations in genes involved in the JAK-STAT pathway.
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Citations
14 Claims
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1. A method for detecting an in-frame deletion mutation in exon 9 of the calreticulin (CALR) gene comprising:
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performing a nucleic acid detection assay on a patient sample to detect a CALR exon 9 in-frame deletion mutation, wherein the mutation is p.E381 _A382>
A, characterized by a deletion of nucleotides 1142-1144 of SEQ ID NO;
1,wherein the patient sample is from a patient that has a myeloproliferative disease or is suspected of having a myeloproliferative disease, wherein the patient is negative for a JAK2 V617F mutation, and wherein the nucleic acid detection assay comprises using a primer pair comprising a forward primer of SEQ ID NO;
10 or 12 and/or a reverse primer of SEQ ID NO;
11 or 13. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14)
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Specification