Development and implantation of PCR-SSP for the genotyping of JAK2 V617F mutation / Desenvolvimento e implantação de metodologia molecular baseada em PCR-SSP para genotipagem da mutação V617F de JAK2

Abstract

The JAK2 protein promotes cells growth and proliferation, and mutations in the JAK2 gene can result in increase of the number of blood cells and in development of myeloproliferative neoplasms. This study aimed to develop and implement the PCR-SSP (Sequence-Specific Primer - Polymerase Chain Reaction) to detect the JAK2 V617F mutation. Therefore, a literature review about genotyping methodologies for this mutation was conducted and primers were based on the model proposed by Xavier (2009), tested and adjusted to the best amplification condition. The PCR-SSP technique was standardized and was effective for the detection of the JAK2 V617F mutation. As it is not expensive, the technique reduces costs and can be implanted even in small molecular biology laboratories, helping the diagnosis of patients with myeloproliferative diseases and favoring research related to this gene.