Figure 4.

Methylation status of the region that overlaps the previously identified deletions (AL132655 nucleotides 107922–109440). A, CpG island prediction revealed three CpG islands (blue shading) based on the following criteria: island size over 100, GC percent over 50.0, and observed/expected CpG ratio over 0.6. Regions within CpG island 1 and CpG island 2 analyzed by bisulfate-modified genomic sequencing are depicted by thick horizontal lines. The locations of antisense exons 3 and 4 are indicated. B, Direct nucleotide sequence analysis was performed on PCR-amplified bisulfite-modified genomic DNA from the noncarrier healthy individual 12 (no deletion control), the unaffected carrier 5 (paternal deletion), the affected individual 9 (maternal deletion), and the patient with patUPD20q (UPD).