Figure 1.
Spectrum and cumulative events of 64 DMD deletion cases and 16 DMD duplication cases.
DMD mutations were detected using MLPA. The X-axis represents exon position, and the Y-axis represents the percentage of the exons involved in deletion (blue) or duplication (pink). Two DMD deletion hotspots, located within exon 44–53 and within exon 3–21, respectively, are shown in yellow.
Figure 2.
Frequency of sequence breakpoints in 64 DMD cases with exon deletions.
The X-axis indicates the exon intervals for breakpoints across the DMD gene. The Y-axis represents the frequency of sequence breakpoints (per kb). Two DMD deletion hotspots, located within exon 43–55 and within exon 10–23, are shown in pink and yellow, respectively.
Table 1.
Small DMD mutations detected using DHPLC.
Table 2.
Prenatal diagnosis and clinical risk in eight cases.
Table 3.
Breakpoints and DNA sequence signatures at the junctions of 21 DMD deletions and duplications.
Figure 3.
Template slippage events of Sample 18.
The inserted sequence is shown in red. The red dotted line indicates the deletion region between intron 44 and intron 51. Short segments of the inserted sequence aligned with the adjacent sequence of the breakpoint. The schematic diagram shows one slippage event of the replication machinery along the template DNA.