Result of s-q-PCR gene copy number assay for patient 24. (A) Results of s-q-PCR gene copy number assay for RPS19 with 4 primer sets. (Bi) The RPS19 gene copy number was analyzed with 9 specific primer sets for RPS19 that span from the 5′UTR to the 3′UTR. (ii) Primer positions of genomic PCR for RPS19. (iii) Region determined to be an intragenic deletion in RPS19. (C) Results of gene copy number assay for RPS19 show a healthy person (i,iii) and a DBA patient (ii,iv), and Ct results are shown (iii-iv). Patient 24 showed a “1-cycle delay” with primers located in the intron 3 region, but other primer sets were normal. (D) Results of genomic PCR amplification visualized by agarose gel electrophoresis to determine the region of deletion. N1 and N2 are healthy samples. *Nonspecific band. (E) Results from the genomic sequence of the 3-kb DNA band from genomic PCR on patient 24 showing an intragenic recombination from −1400 to 5784 (7157 nt) in RPS19. **P < .001.