ArticleThe Journal of molecular diagnostics : JMD2010
Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 21 citations in OpenAlex.
- The molecular management of classic myeloproliferative neoplasm.Journal of the Egyptian National Cancer Institute · 2025Review
- Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.Journal of Cancer · 2018Article
- A Novel Homozygous Nucleotide Deletion in the JAK2 Gene in a Pediatric Patient with B-cell Precursor Acute Lymphoblastic Leukemia.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2012Article
- A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.PloS one · 2012Article
- Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia.Revista brasileira de hematologia e hemoterapia · 2011Article
- Myeloproliferative neoplasms and the JAK/STAT signaling pathway: an overview.Revista brasileira de hematologia e hemoterapiaArticle
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
JAK2 V617F is the most frequently found somatic mutation in polycythemia vera (PV). Among the cases negative for V617F, a significant fraction have a mutation in exon 12 of the JAK2 gene. Several groups have reported that the exon 12 mutations are present in only a small fraction of the blood cells in some patients. We have developed an assay to detect these mutations with an analytical sensitivity of 0.1% by using a "PCR clamp" to inhibit amplification of the normal sequence and enhance amplification of DNA containing a mutation in the clamp target sequence. The products of this reaction were analyzed by capillary electrophoresis to detect deletions, which are the most frequent type of exon 12 mutations, or by nucleotide sequencing to detect all of the mutations. In a survey of 34 specimens from patients with PV or idiopathic erythrocytosis who did not have a JAK2 V617F mutation, we found four with a mutation in exon 12, 3 of 10 with PV, and 1 of 24 with idiopathic erythrocytosis. In two cases the mutation was present in a small fraction of the cells and difficult to detect without the use of the clamp. The use of an assay with increased analytical sensitivity enhances the ability to identify patients with mutations in exon 12 of the JAK2 gene.
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Registered trials
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