Pre-rRNA–processing defect in CD34+ cells from patients with DBA who have mutated RPS19
| Clinical status* . | RPS19 status† . | No. sample runs‡ . | 21S/18SE ratio§ . |
|---|---|---|---|
| Control-1 | — | 3 | 1.4 |
| Control-2 | — | 3 | 1 |
| Control-3 | — | 2 | 1.2 |
| Control-4 | — | 3 | 1.2 |
| DBA-5 | RPS19+ | 3 | 1 |
| DBA-6 | RPS19+ | 3 | 0.9 |
| DBA-8 | RPS19−/complete deletion | 3 | 1.7∥ |
| Clinical status* . | RPS19 status† . | No. sample runs‡ . | 21S/18SE ratio§ . |
|---|---|---|---|
| Control-1 | — | 3 | 1.4 |
| Control-2 | — | 3 | 1 |
| Control-3 | — | 2 | 1.2 |
| Control-4 | — | 3 | 1.2 |
| DBA-5 | RPS19+ | 3 | 1 |
| DBA-6 | RPS19+ | 3 | 0.9 |
| DBA-8 | RPS19−/complete deletion | 3 | 1.7∥ |
— indicates not sequenced.
Patients diagnosed with DBA are listed as DBA-5, DBA-6, and DBA-8.
The RPS19 gene was sequenced in each patient with DBA. RPS19+ indicates no mutations were found. RPS19− indicates mutations were found.
Number of times each sample was run on a different agarose gel.
Average ratio of 21S to 18SE pre-rRNA after phosphorimage analysis. The 21S/18SE ratio for each sample was normalized against the control-2 ratio in the same gel.
P < .003. The P value reported is for a comparison of the RPS19− data set with the combined control data sets using the Student t test.