MPL mutations in JAK2 V617F negative patients with myeloproliferative disease

Patent metadata

Field	Value
Publication number	US-9733249-B2
Application number	US-201414492822-A
Country	US
Kind code	B2
Filing date	Sep 22, 2014
Priority date	Dec 4, 2009
Publication date	Aug 15, 2017
Grant date	Aug 15, 2017

Abstract

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.

First claim

What is claimed is:

1. A method of detecting a T1588 T1599 del/ins6 mutation in the myeloproliferative leukemia (MPL) gene in an individual, comprising:
(a) contacting a sample containing a MPL nucleic acid from an individual suspected of having a mutation in the MPL gene with a detectably labeled nucleic acid probe that hybridizes to a mutant MPL nucleic acid comprising the T1588 T1599 del/ins6 mutation but not to a wild type MPL nucleic acid, wherein the nucleic acid probe comprises the sequence set forth in SEQ ID NO:10; and
(b) detecting a hybrid formed between the detectably labeled nucleic acid probe and the mutant MPL nucleic acid.

2. The method of claim 1 , wherein said sample is selected from the group consisting of blood, serum, and plasma.

3. The method of claim 1 , wherein said individual does not have a pathologic mutation in the JAK2 gene.

4. The method of claim 1 , wherein said individual does not have a mutation in the JAK2 gene encoding V617F mutation.

5. The method of claim 1 , wherein the individual is suspected of having a myeloproliferative disease.

6. The method of claim 5 , wherein said myeloproliferative disease is selected from the group consisting of polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF).

7. The method of claim 1 , wherein said MPL nucleic acid from the individual is mRNA or genomic DNA.

8. The method of claim 7 , further comprising reverse transcription of MPL mRNA to cDNA.

9. The method of claim 1 , further comprising nucleic acid amplification.

10. The method of claim 9 , wherein the nucleic acid amplification is allele specific amplification.

11. The method of claim 1 , wherein the method comprises a 5′ nuclease assay.

Assignees

• Quest Diagnostics Invest Inc

Inventors

• Ma Wanlong
• Albitar Maher

Classifications

• C12Q1/6883

  for diseases caused by alterations of genetic material · CPC title

• G01N33/57505 Primary

  of the blood, e.g. leukaemia · CPC title

• G01N33/57426 Primary

  Physics · mapped topic

• C12Q2600/156

  Polymorphic or mutational markers · CPC title

• G01N2333/715

  for cytokines; for lymphokines; for interferons · CPC title