Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis.

Journal Article (Journal Article)

A point mutation in the JAK2 gene, a member of the tyrosine kinase family, was recently identified and shown to be associated with several myeloproliferative disorders. Several studies identified the same JAK2 point mutation (1,849G>T), resulting in the substitution of a valine to phenylalanine at codon 617 (V617F). We developed a simple and sensitive method to detect this mutation via polymerase chain reaction and probe dissociation analysis using the LightCycler platform, and we compared this method to existing restriction fragment-length polymorphism, direct sequencing, and amplification refractory mutation system methods. We found that the LightCycler method offered advantages of speed, reliability, and more straightforward interpretation over the restriction fragment-length polymorphism and sequencing approaches.

Full Text

Duke Authors

Cited Authors

  • Lay, M; Mariappan, R; Gotlib, J; Dietz, L; Sebastian, S; Schrijver, I; Zehnder, JL

Published Date

  • July 2006

Published In

Volume / Issue

  • 8 / 3

Start / End Page

  • 330 - 334

PubMed ID

  • 16825505

Pubmed Central ID

  • PMC1867612

International Standard Serial Number (ISSN)

  • 1525-1578

Digital Object Identifier (DOI)

  • 10.2353/jmoldx.2006.050130


  • eng

Conference Location

  • United States