Figure 1

Detection of BCL11A and HBS1L-MYB SNPs by multiplex minisequencing assays. A. Electropherogram shows the multi detection of 12 BCL11A SNPs from a β-thalassaemia donor. Peaks corresponds to the fluorescence signal that is detected for each SNP. The relative fluorescence units for the detected fragments as they occurred over time are represented along y-axis and size (nt) along the x-axis. B. Peaks presented on 4 separate electropherograms according to their colour, which indicates the fluorescent ddNTP extension. In the cases where the sample is homozygous for a specific SNP, the alternative allele is shown with a dotted peak in order to provide an indication of its position, i.e. G for rs766432; A: rs1427407; A: rs6706648; T: rs4671393; and T: rs6545816 that do not exist in the genotypic profile of this sample. Asterisks indicate non-specific peaks; these do not interfere with the genotyping of the flanking SNPs. For SNPs detected with a reverse primer, the peak colours correspond to the complementary bases of the denoted genotype. C. BCL11A SNPs profile of the β-thalassaemia donor. D. Electropherogram shows the multi detection of 16 HBS1L-MYB SNPs from a β-thalassaemia donor. E. Separate coloured peaks are denoted as described in (B). Dotted peaks indicate the position of the secondary peak that represents the other allele G for rs28384513, A; rs6929404, C; rs1320963 and C; rs6904897 that do not exist in the genotypic profile of this sample. The asterisk indicates a non-specific peak which does not affect the genotyping of the flanking SNPs. F. HBS1L-MYB SNPs profile of the β-thalassaemia donor.