NOTCH families are transmembrane proteins that have dual functions as both cell surface receptors and nuclear transcriptional regulators. If NOTCH1 pathway goes awry, it contributes to cellular transformation and tumorigenesis. Here we have investigated mutations in the NOTCH1 gene, in 50 Iraqi patients with acute lymphoblastic leukemia. We determined the occurrence of mutations in NOTCH1 using HRM-PCR and sequencing of polymerase chain reaction products as a sensitive assay for the detection of genetic mutations. This study assessed the feasibility of using HRM-PCR to screen for NOTCH1 mutations in blood samples obtained by from ALL patients in routine clinical practice. Blood samples obtained from ALL patients were evaluated according to our standard clinical protocols. DNA extracted from these samples was subjected to HRM-PCR to amplify exons 26, 27 and 34 of NOTCH1 followed by sequencing. Mutations were identified in 28% (14/50) of NOTCH1 including two novel mutations. This suggests that NOTCH1 is good prognostic for ALL Iraqi patients. Further studies with a wide range of sampling to confirm these findings are required.
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