Functional analysis of Lnk gene responsible for myeloproliferative neoplasma

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591399
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: Ehime University
• Principal Investigator: YAMANOUCHI Jun 愛媛大学, 医学部附属病院, 講師 (10423451)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 本態性血小板血症

Outline of Final Research Achievements

I analyzed for the JAK2 V617F mutation and Lnk mutations in patients with essential thrombocythemia. As a result, it was found a heterozygous gene abnormality in the SH2 domain of Lnk gene in a patient with JAK2 V617F mutation negative. This mutation was a new variant that has not been reported previously. Therefore, I analyzed the impact of this Lnk mutation on the signaling and phosphorylation in JAK / STAT system using BaF3 cells and mouse ES cells.

Free Research Field

血液内科学