Figure 2 of Redeker, Mol Vis 2008; 14:836-840.


Figure 2. Example of normalized MLPA results. A and B: The height of the columns represents the dosage of the respective segments in the genomic DNA with two alleles (value of about one corresponds to two alleles). The light blue columns represent the 11p13 specific probes from telomere to centromere. The brown columns represent the deleted probes. The allele dosage of the deleted probes was found in the range of about 0.5, which corresponds to one allele. The dark blue columns represent the control probes. C: Long range PCR for PAX6 exons 8–10 confirmed the deletion. The deleted allele is more strongly amplified than the normal allele due to preferential amplification of smaller fragments. Lane 1 is a 100 bp ladder size marker; lane 2 is the DNA of the patient; and lane 3 is a control DNA.