Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors

Leukemia volume 20, page 1622 (2006)Cite this article

Access through your institution
Buy or subscribe

The JAK2V617F mutation has been recently described in several subsets of Philadelphia-negative myeloproliferative diseases (MPD) (for a review see McClure et al.1). However, its precise role and position in the multistep genetic events leading to such MPD is still unknown. It may be that this mutation represents an early molecular onset causing the MPD phenotype or occurs as a mutation associated with disease progression.2 Its identification in normal patients would favour the first hypothesis, and could thus help in understanding the function of the JAK2V617F mutation in genesis of mutated MPD. Using a sensitive quantitative polymerase chain reaction (PCR) approach, we thought to search for JAK2V617F mutation in a cohort of normal donors, and have detected it in around 10% of healthy volunteers.

Three blood samples were taken from 57 healthy donors – aged from 23 to 52 years – after informed consent was obtained. The samples were immediately coded to ensure anonymity of the donors. Five patients were rejected from the study because of a slightly abnormal blood count analysis performed on the first tube. Red blood cell lysis as well as DNA and RNA extractions were performed at day 1 from the second tube, and at day 2 from the third one. The PCR method used has been described elsewhere (in press in Clinical Chemistry). In brief, we used a quantitative PCR approach, which combines both molecular beacon probe and locked nucleic acid (LNA) oligonucleotide in a single and sealed tube. Molecular beacon was used to detect specifically the JAK2V617F-mutated allele while LNA oligonucleotide significantly and specifically limited the amplification of the wild-type (WT) JAK2 sequence. This blocking property for the WT target allowed thus to enrich the PCR products with JAK2V617F-mutated amplicons and to reach a quantitative sensitivity of 0.01% of mutated alleles.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. McClure R, Mai M, Lasho T . Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 2006; 20: 168–170.

    Article  CAS  Google Scholar 

  2. Kralovics R, Passamonti F, Buser AS, Teo S-S, Tiedt R, Passweg JR et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779–1790.

    Article  CAS  Google Scholar 

  3. Johansson P, Kutti J, Andréasson B, Safai-Kutti S, Vilen L, Wedel H et al. Trends in the incidence of chronic Philadelphia chromosome negative (Ph−) myeloproliferative disorders in the city of Goteborg, Sweden, during 1983–99. J Intern Med 2004; 256: 161–165.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medical Genetics, Faculty of Medicine, Erasme Hospital, Free University of Brussels, Brussels, Belgium

    P Sidon, H El Housni, B Dessars & P Heimann

Authors
  1. P Sidon
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. H El Housni
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. B Dessars
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. P Heimann
    View author publications

    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence to P Heimann.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Sidon, P., El Housni, H., Dessars, B. et al. The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors. Leukemia 20, 1622 (2006). https://doi.org/10.1038/sj.leu.2404292

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404292

This article is cited by

Search

Advanced search

Quick links