Detection of Low Allele Burden of JAK2 Exon 12 Mutations Using TA-cloning in Patients with Erythrocytosis

作者：Ohyashiki Junko H^*; Hisatomi Hisashi; Shimizu Syoko; Sugaya Maki; Ohyashiki Kazuma

来源：Japanese Journal of Clinical Oncology, 2009, 39(8): 509-513.

DOI：10.1093/jjco/hyp048

• Janus kinase 2
• polycythemia vera
• mutation

Polycythemia vera (PV) is a clonal myeloproliferative neoplasia associated with the activation of the Janus-activating kinase 2 (JAK2) mutation. The aim of this study is to identify clonal expansion of exon 12 mutations.
We performed DNA sequencing of the JAK2 exon 12 after TA-cloning in JAK2-V617F-negative and JAK2-V617F-positive PV patients.
We found clonal mutations (i.e. H538-K539delinsL and D544G) in 3 of 7 JAK2-V617F-negative PV patients, however, unlike JAK2-V617F, allele burden of JAK2 exon 12 mutation was low. Since allele-specific PCR is able to amplify only the limited region which contains known mutations with gain-of-function, we need to clarify the biological implications of unknown single nucleotide substitution of the JAK2 exon 12 with low clonal burden in erythrocytosis patients.

• 出版日期2009-8