Detection of low allele burden of JAK2 exon 12 mutations using TA-cloning in patients with erythrocytosis.
Jpn J Clin Oncol
; 39(8): 509-13, 2009 Aug.
Article
en En
| MEDLINE
| ID: mdl-19491085
ABSTRACT
OBJECTIVE:
Polycythemia vera (PV) is a clonal myeloproliferative neoplasia associated with the activation of the Janus-activating kinase 2 (JAK2) mutation. The aim of this study is to identify clonal expansion of exon 12 mutations.METHODS:
We performed DNA sequencing of the JAK2 exon 12 after TA-cloning in JAK2-V617F-negative and JAK2-V617F-positive PV patients. RESULTS ANDCONCLUSIONS:
We found clonal mutations (i.e. H538-K539delinsL and D544G) in 3 of 7 JAK2-V617F-negative PV patients, however, unlike JAK2-V617F, allele burden of JAK2 exon 12 mutation was low. Since allele-specific PCR is able to amplify only the limited region which contains known mutations with gain-of-function, we need to clarify the biological implications of unknown single nucleotide substitution of the JAK2 exon 12 with low clonal burden in erythrocytosis patients.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Policitemia
/
Policitemia Vera
/
Exones
/
Janus Quinasa 2
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Jpn J Clin Oncol
Año:
2009
Tipo del documento:
Article
País de afiliación:
Japón