Figure 1
AS-PCR assay for the detection of ibrutinib-resistant BTK mutations. (A) Conventional agarose-gel electrophoresis of the AS-PCR products documenting the sensitivity (10−3) and specificity of the AS-PCR assay. After AS-PCR for the mutant allele, a mutation-specific band is amplified from the mutated plasmid DNA (positive control) and its serial dilutions into wild-type plasmid DNA down to 0.1%. No bands are amplified from the wild-type plasmid DNA and the wild-type genomic DNA from a healthy donor (negative controls), thus confirming the specificity of the assay. (B) Results of the AS-PCR screening of the BTK c.T1441A; p.C481S and c.G1442C; p.C481S mutations in ibrutinib-naïve CLL patients representative of different phases of the disease.
