TY - JOUR AU - Thy Ngoc, Nguyen AU - Bich Hau, Bui AU - Hoang Nam, Pham AU - Tuan Anh, Tran AU - Thi Trang, Do AU - Thi Xuan, Nguyen PY - 2021/10/13 Y2 - 2024/03/29 TI - Evaluating several methods of JAK2 V617F mutation-genotyping to predict the risk of getting polycythemia vera and other myeloproliferative neoplasm diseases JF - Vietnam Journal of Biotechnology JA - Vietnam J. Biotechnol. VL - 19 IS - 3 SE - Articles DO - 10.15625/1811-4989/15666 UR - https://vjs.ac.vn/index.php/vjbt/article/view/15666 SP - 433-440 AB - <p>Polycythemia vera, essential thrombocythemia and primary myelofibrosis are members of the Philadelphia negative chronic subgroup of Myeloproliferative neoplasm. Published studies showed that the mutation <em>JAK2</em> V617F is mostly responsible for the diseases; therefore, an accurate, low-cost and rapid molecular method to identify this mutation is important in screening and early diagnostic of these diseases. Different methods for genotyping of <em>JAK2</em> V617F have been proposed. In this study, we evaluated the quality and cost-effectiveness of three genotyping methods, i.e., PCR-ARMS, PCR-RFLP, Sanger sequencing, to determine the appropriate genotyping for <em>JAK2</em> V617F and predicted <em>in silico</em> the effect of this mutation on the structure and function of Janus kinase 2 protein. Results showed that the Sanger sequencing and PCR-RFLP genotyping methods were more accurate than PCR-ARMS. PCR-RFLP was also more rapid and economical than the other methods. <em>In silico</em> studies also demonstrated that the <em>JAK2</em> V617F mutation had a large effect on the activity of corresponding protein. These results provided the initial data for further studies on genetic screening and prediction of myeloproliferative neoplasm and other related diseases in the Vietnamese population.</p> ER -