Figure 3. The representative chromatograms
of gene dosage PCR. A: A normal female has two copies of the RS1.
B: A normal male has one copy of the RS1. C: The
chromatogram of case 13 showed one copy of the RS1. Each
amplified products from six exons of RS1 is indicated by the
arrowhead above the fluorescent peak, and the size of each amplicon is
shown below. The ratio calculated from the height of each peak is
proportional to the targeted exon dosage, therefore duplication can be
ruled out in the case 13. For example, the gene dosage of exon 4 was
calculated as 1.0 in normal male, 2.09 in normal female, and 1.05 in
case 13. Abbreviations: beta hemoglobin gene (HBB);
beta-2-microglobulin gene (B2M).