Compositions and methods for detecting mutations in jak2 nucleic acid

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, myeloproliferalive diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.

1 .- 16 . (canceled) 
     
     
         17 . A method for diagnosing a human individual as having a myeloproliferative disease, the method comprising:
 a) assaying a biological sample from the individual, wherein the sample comprises a JAK2 nucleic acid;   b) detecting a missense mutation in exon 13 of the JAK2 nucleic; and   c) diagnosing the individual as having a myeloproliferative disease when the JAK2 missense mutation in exon 13 is detected thereby indicating the individual has a myeloproliferative disease.   
     
     
         18 . The method of  claim 17 , wherein the missense mutation is a guanine at position 2160 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         19 . The method of  claim 17 , wherein the missense mutation is a thymidine at position 2180 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         20 . The method of  claim 17 , wherein the missense mutation is a thymidine position 2185 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         21 . The method of  claim 17 , wherein the missense mutation is a thymidine position 2193 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         22 . The method of  claim 17 , wherein the missense mutation is a cytosine at position 2194 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         23 . The method of  claim 17 , wherein the missense mutation is a thymidine at position 2204 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         24 . The method of  claim 17 , wherein the missense mutation is an adenine at position 2205 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         25 . The method of  claim 17 , wherein the missense mutation is a thymidine at position 2229 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         26 . The method of  claim 17 , wherein the missense mutation is an adenine at position 2253 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         27 . The method of  claim 17 , wherein the missense mutation is a thymidine at position 2266 of SEQ ID NO: 1 in the JAK2 nucleic acid. 
     
     
         28 . The method of  claim 17 , wherein oligonucleotide primers that flank exon 13 are used to detect the missense mutation in exon 13. 
     
     
         29 . The method of  claim 17 , wherein the JAK2 nucleic acid is mRNA. 
     
     
         30 . The method of  claim 17 , wherein said sample is selected from the group consisting of blood, serum, and plasma. 
     
     
         31 . The method of  claim 29 , wherein said JAK2 mRNA further comprises at least one additional missense mutation in exon 12, 13, 14 or 15. 
     
     
         32 . The method of  claim 29 , wherein the JAK2 mRNA or cDNA derived therefrom is sequenced. 
     
     
         33 . A method for detecting a mutated JAK2 nucleic acid in a sample, comprising assaying the sample and detecting the presence of a missense mutation in exon 13 of a JAK2 nucleic acid in the sample, wherein the missense mutation is selected from the group consisting of
 a guanine at position 2160 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a thymidine at position 2180 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a thymidine at position 2185 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a thymidine position 2193 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a cytosine at position 2194 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a thymidine at position 2204 of SEQ ID NO: 1 in the JAK2 nucleic acid,   an adenine at position 2205 of SEQ ID NO: 1 in the JAK2 nucleic acid,   a thymidine at position 2229 of SEQ ID NO: 1 in the JAK2 nucleic acid,   an adenine at position 2253 of SEQ ID NO: 1 in the JAK2 nucleic acid, and   a thymidine at position 2266 of SEQ ID NO: 1 in the JAK2 nucleic acid.