Fig. 2
Deletions in patients with Diamond Blackfan anemia. a Representative raw data dispersion with 95% confidence intervals from one of the three patients with RPS19 deletions (Patient 2). The dispersion analysis showed that 97.26% of the reads were within fitted interval. The purple dots represent data from chromosome 19 and show clear separation of dots outside the whole data (the RPS19 deletion) from other dots on chromosome 19 (also purple) data and on other chromosomes (gray dots). b Gel electrophoresis shows clear reduction in the quantity of signal of RPS19 exon 3 and exon 4 in the patients compared to controls. In this experiment FOXP2 and RPL11 were used as internal controls. c Results of band densitometry from the gel electrophoresis. d Raw data dispersion with 95% confidence intervals from patient 4 are shown. Totally, 98.57% of the read were within fitted interval. The purple dots on the left show clear separation of the RPL5 deletion from the whole data and from the chromosome 1 data in each of the patient samples. e Gel electrophoresis shows clear reduction in the quantity of signal of RPL5 exon 2–7 in the patient compared to controls. In this experiment FOXP2 and RPL11 were used as internal controls. f The lower panel shows the results of band densitometry from the gel electrophoresis. g An RPL11 gene deletion in Patient 5 is shown. The figure shows the raw data dispersion with 95% confidence intervals from patient 5. Totally, 98.50 % of the reads were within fitted interval. The purple dots on the left shows clear separation of the RPL11 deletion from the whole data and from the chromosome 1 data in each of the patient samples. h Gel electrophoresis shows clear reduction in the quantity of signal of RPL11 exon 2 and 4 in the patient compared to controls. In this experiment RPL35A exon 7 was used as an internal control. i Band densitometry from the gel electrophoresis is shown. E indicates exon, P indicates a patient number, and C indicates a healthy control subject.
