THE SOFTWARE “MINOR VARIANT FINDER” AS A TOOL FOR ANALYZING THE LEVEL OF ALLELIC LOAD BY SOMATIC MUTATIONS IN HEMATOLOGICAL DISEASES

Abstract

The somatic mutation of JAK2 p. 1849 G> T (V617F) leads to cytokine-independent growth of bone marrow cell lines. It is one of the diagnostic criteria for chronic myeloproliferative neoplasm. Sanger sequencing is the gold standard for analyzing this mutation, but has low sensitivity. The Minor Variant Finder software is able to detect a mutation at the level of allelic load of 5%. To check the sensitivity of the software, the DNA of 7 patients with CMN with an already known level of allelic load were taken. Sanger sequencing and analysis in the Minor Variant Finder confirmed the declared sensitivity of the software.

Keywords

• V617F
• Minor Variant Finder
• хронические миелопролиферативные неоплазмы