Fig 2. qPCR analysis of exon 51, 52 and 53 copy numbers.

A. Schematic representation of the probe locations. B. qPCR analysis of hDMD/mdx (+/- and +/+), mdx/BL6 and hDMDdel52 (group 1 and group 2) mice. To detect whether the hDMDdel52/mdx group 2 mice had an additional deletion of exon 51 or 53, qPCR was performed with primers targeting exon 51, 52 and 53 exon-intron boundaries. In both homozygous and heterozygous hDMD/mdx mice all exons could be detected, as expected with a 2-fold difference in copy number. For group 1 mice, exon 51 and exon 53 were detected, while exon 52 was absent. For the group 2 mice however, a reduced signal for exon 53 was detected.