Skip to main content
. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: J Pediatr Hematol Oncol. 2016 Oct;38(7):e260–e262. doi: 10.1097/MPH.0000000000000587

FIGURE 2.

FIGURE 2

Genetic and molecular analysis confirms the diagnosis of DBA. A, A normal cDNA sequence of RPL5. B, Relative expression levels of RPL5 of the patient (dark gray bars) compared with a normal control (light gray bars), demonstrating a reduced expression of RPL5 in the patient. RPL5 expression was analyzed using 2 independent reactions. PCR was performed in triplicates; error bars represent the standard error. C, Defect in pre-rRNA processing evidenced by accumulation of 32S rRNA, confirmed by an electropherogram of ribosomal rRNA. Total RNA of peripheral blood mononuclear cells of the patient (left panel) compared with a healthy control (right panel) is presented. 18S, 28S, and 32S rRNA species are indicated. A reduction of the 28S peak and increase of the 32S rRNA peak are evident in the patient’s sample compared with the control. ex indicates exons.