Bilous N. I. Detection of NOTCH1 c.7544_7545delCT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction / N. I. Bilous, I. V. Abramenko, A. A. Chumak, I. S. Dyagil, Z. V. Martina // Эксперим. онкология. - 2016. - 38, № 2. - С. 112-116. - Бібліогр.: 28 назв. - англ.Aim - to evaluate real-time polymerase chain reaction (PCR) assay system for detection of NOTCH1 c.7541_754delCT mutation in chronic lymphocytic leukemia (CLL) patients. A total of 325 CLL patients were included in the study. Screening for NOTCH1 c.7544_7545delCT was performed using conventional PCR-based amplification refractory mutation system (ARMS) method. All 33 samples harboring c.7544_7545delCT allele and 5 negative cases as control were submitted to real-time PCR. Specificity and sensitivity of two PCR techniques were comparable. NOTCH1 c.7544_7545delCT mutation was found by ARMS in 10,1 % of CLL patients, which is consistent with the data of other studies. However, the results of ARMS PCR in a minority of cases (2,15 %) were doubtful and required reinvestigation. Real-time PCR, being less time-consuming, showed advantage in the assessment of the amplification's specificity (using the melting curve analysis). It also allows the quantitative assessment of NOTCHl-nrnt&teA clone. Conclusion: NOTCH1 c.7544_7545delCT mutation resulting in removal of the C-terminal PEST domain, deregulation of NOTCH 1-dependent signaling pathways, has negative influence on prognosis of CLL and efficiency of therapy with anti-CD20 monoclonal antibodies. Real-time PCR allows the fast and reliable detection of c.7544_7545delCT mutation and can be used for the screening of this molecular lesion in CLL patients. Індекс рубрикатора НБУВ: Р569.411 + Р411.022.3
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Шифр НБУВ: Ж14160 Пошук видання у каталогах НБУВ
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