Research Article

A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia

Figure 1

Fragment analysis and sequencing results. (a) Fragment analysis of a sample with wild-type NOTCH1 revealing a single 391 bp peak. (b) Fragment analysis of a chronic lymphocytic leukemia (CLL) sample harboring the NOTCH1 PEST domain mutation c.7544_7545delCT showing three distinct peaks: a 391 bp peak, corresponding to wild-type NOTCH1, a 389 bp peak, amplified with primers N1F and NWR (non-mutation-specific), revealing a 2 bp deletion, and a 356 bp peak, amplified with the allele-specific primer NMR. (c) Sanger sequencing of a sample carrying the NOTCH1 mutation c.7544_7545delCT (upper panel) and a wild-type sample (lower panel).