Figure 3

Detection of a somatic mosaicism corresponding to a duplication of exons 61 and 62 of the DMD gene in a carrier female (patient 16). (a) Real-time quantitative PCR of exons 61 and 62 performed in genomic DNA from blood of patient 16 (P), suggested that 50% of cells are heterozygous for the exons 61 and 62 duplication. DupC designates a control female heterozygous in all cells for duplication of exons 61 and 62 of the DMD gene. N indicates a normal control female. The vertical axis shows the relative quantification of the tested DNA compared with the normal control allele, in three different PCR experiments, the mean of the three quantifications is indicated above each peak. (b) Detection by genomic CGH array of the mosaic duplication. The arrow indicates the location of the duplication that extends on 2.3 kb encompassing exons 61 and 62. The log₂ ratio is at +0.3, in accordance with the quantification of 50% of heterozygous mutant:wild-type cells.