Figure 2. Quantification of ASE in APC(+) polyposis patients.

A. Distribution of APC ASE in controls, non-carriers and carriers of a pathogenic APC mutation from the ICO and UM subsets. ASE values are the proportion between the C and T allele frequencies of the APC coding SNP rs2229992. Each point represents the mean of the triplicate measurements, and each replicate was performed for all samples in each subset. Allelic ratios ranged from 0.646 to 8.706. The normal ASE cut-off range is indicated by dashed horizontal lines (at 1.168 and 0.836) and determined by control ASE values, as indicated in Patients and Methods. Three sample electropherograms obtained from the SNaPshot reaction, and their corresponding ASE values, are also shown. B. Box plots of ASE values for the location of the mutation in the APC gene. Patients were stratified into two groups by mutation site (“Outside e15”, mutation located from exons 1-14; and “Inside e15”, mutation located in exon 15). To give an overview of our results, ASE values are represented as the proportion of allelic frequencies between the underexpressed and the overexpressed allele in each sample, independently if whether it is C or T. The interquartile range includes 50% of the samples and is shown by white boxes. The interdecile range includes 90% of the patients and is shown as whiskers. Outliers are shown by empty dots. Mutated groups were compared using the non-parametric Mann-Whitney test.