Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic Myeloproliferative Disorders
نویسندگان
چکیده
منابع مشابه
Pathogenetic role of JAK2 V617F mutation in chronic myeloproliferative disorders.
The molecular pathogenesis of chronic myeloproliferative disorders (MPDs) is poorly understood. The hematopoietic progenitor cells of patients with polycythemia vera (PV) or essential thrombocythemia (ET) are characterized by hypersensitivity to hematopoietic growth factors and formation of endogenous erythroid colonies. Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V6...
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Schizophrenia is a severe neuropsychiatric disorder with symptoms such as hallucination, delusion and mental disorder. It is a complex disorder, in which genetic components play a crucial role in its pathogenesis. Among candidate genes for schizophrenia, Neuregulin 1 (NRG1) gene is the most important gene, association of which with the illness has been confirmed in several studies. Single nucl...
متن کاملDiagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders.
In 2005, multiple groups identified a high frequency of the V617F (G→T) mutation in the tyrosine kinase gene JAK2 as the most common molecular abnormality in chronic myeloproliferative disorders. Before 2005, there had been no recurring cytogenetic abnormality described at a high incidence in these disorders. The initial descriptions could well be classified as discovery papers because each gro...
متن کاملA simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation.
The point mutation 1849 (GT) V617F in the JAK2 gene occurs at high frequency in several chronic myeloproliferative diseases. Although a number of V617F mutation detection methods have been described, few are readily implemented in a diagnostic setting. We developed a simple and sensitive allelespecific competitive blocker polymerase chain reaction (ACB-PCR) assay to detect the V617F mutation. D...
متن کاملWidespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases. Here we have investigated samples from 679 patients and controls for the nonreceptor tyrosine kinase JAK2 V617F mutation. Of the 480 myeloproliferative disorder (MPD) samples, the proportion of positive cases ...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2007
ISSN: 1525-1578
DOI: 10.2353/jmoldx.2007.060133