Figure 4

Differential accessibility is non-random among related individuals. A. Schematic of a two probe two color single copy FISH strategy to distinguish chromosome 15 homologs is shown. The hemizygous deletion on proximal chromosome 15q is identified by the loss of probe UBE3A (green) on one homolog and the presence of HERC2, GABRA5, SNPRN (red, pink). The deletion occurs on the paternal homolog in individual II-1 (mother) and on the maternal homolog in the children (III-1 and III-2). DA for probes outside of the deletion is represented by a bright hybridization on one homolog (red circle) and weak fluorescence hybridization on the other one (pink circle). The deleted chromosome is gray and the normal chromosome is white. B. DA detected by HERC2, GABRA5, SNPRN showed that the paternal chromosome in the three individuals (deletion in II-1; normal in III-1 and III-2) contained the brighter fluorescence intensities (HERC2 II-1, 73.3% of metaphase cells III-1, 84.6%; GABRA5 II-1, 68% III-2, 77.8%; SNRPN II-1, 82.6% III-2, 75.0%) and was more accessible.