Figure 2

Demonstration of the decreased expression of alleles carrying nonsense and frameshift mutations. Panel A shows the results of semiquantitative sequencing of six STK11 mutations. The relative expression of the mutant allele (based on area-under-the-curve measurements, AuC) is shown in relation to the nucleotide position of the newly acquired stop codon. An example of AuC measurement is shown on Panel B. The genomic DNA and cDNA sequencing electrophoretograms of a c.801delC mutation carrier sample (HP02) is presented, with the AuC base ratio as well as the ratio change (cDNA compared to gDNA) given below for the nucleotide position marked by an asterisk.