High-resolution melting analysis for rapid and sensitive NOTCH1 screening in chronic lymphocytic leukemia.

作者: Jing-Jing Xu , Fei-Rong Yao , Min Jiang , You-Tao Zhang , Feng Guo

DOI: 10.3892/IJMM.2017.2849

关键词:

摘要: Chronic lymphocytic leukemia (CLL) is a biological and clinical heterogeneous disease. Activating mutations of NOTCH1 have been implicated to be associated with adverse prognosis in CLL. The objective the present study was develop an effective high-resolution melting (HRM) assay for detecting mutations. Genomic DNA (gDNA) extracted from 133 CLL patients screened by HRM assay, results were compared data obtained using direct sequencing. relative sensitivity sequencing evaluated diluted gDNA different mutational frequencies. able detect discriminate samples wild-type template Eight 133 CLL patients (6.02%) scored positively assay. detected analysis achieved 100% concordance those determined had higher sensitivity (1%) shorter turn-around time (TAT), In conclusion, developed us confirmed rapid, sensitive, promising approach high-throughput prognostic screening It enables real-time evaluation, which great significance practice may facilitate decision-making clinicians

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