What is it about?
Polycythemia vera is a hematological malignancy characterized by the overproduction of red blood cells in the bone marrow. Pathogenesis of Polycythemia vera was thought to be caused by genetic mutations of the Janus kinase 2 (JAK2) gene, especially the JAK2 V617F and exon 12 mutations since those mutations were found frequently in the patients. The prevalence of JAK2 exon 12 mutations among Polycythemia Vera patients in Vietnam has not been studied yet. The overall study objective is to investigate the frequency of JAK2 exon 12 mutations among V617F-negative Polycythemia Vera patients in Vietnam.
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Why is it important?
This outcome provided the initial result for further analysis of the molecular mechanism of PV and other MPNs disorders.
Perspectives
. The result suggested that although the importance of JAK2 in controlling the outcome of PV was well-known, this disease might be manipulated by a complex genetic interaction network, instead of a single-gene disorder. This outcome provided the initial result for further analysis of the molecular mechanism of PV and other MPNs disorders.
Thy-Ngoc Nguyen
Vietnam Academy of Science and Technology
Read the Original
This page is a summary of: The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?, Human Heredity, August 2022, Karger Publishers,
DOI: 10.1159/000526201.
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