Fig. 2

Quantitative properties of newly developed single copy probes. A Proportion of metaphase cells hybridized with single copy (sc) probes that exhibit different probe fluorescence intensities between homologs (differential accessibility [DA]; dark grey) and similar hybridization intensities (equivalent accessibility [EA]; medium grey). Each row represents unique sc probe data derived from combined metaphase FISH results of lymphocyte samples from two individuals. Probe names are listed in the left margin. For each of the first 18 probes, the majority of cells show DA hybridization pattern (73–89%) with a minor portion showing EA. The last row, control probe 3.3_1p36, shows that the opposite pattern. Ie. The majority of cells had an EA hybridization pattern (76%) with a minor portion showing DA. Significance between DA and EA probes was demonstrated using a two-tailed binomial test with normal approximation (α= 0.05). B Box and whisker plots of normalized integrated fluorescence intensity ratios between homologs. Intensity differences were quantified by GVF for 25 cells per probe. Five DA sc probes (XDH_IVS30-IVS27, ZNF385D_cen678130, DUOX1_IVS1-IVS3, TPM1_tel3200, PCK1_cen209-IVS6) demonstrated a large difference in median hybridization intensities between homologs relative to the sc EA probe (3.3_1p36). A significant difference was determined between the median integrated intensity ratio of DA (median intensity ratio = 0.82) and EA regions (median intensity ratio = 0.23) using a Mann–Whitney U test