Abnormal pre-rRNA processing in CD34− cells from patients with DBA who have mutations in RPS19
| Clinical status* . | RPS19† . | No. sample runs‡ . | 21S/18SE ratio§ . |
|---|---|---|---|
| Control-1 | — | 2 | 1.3 |
| Control-2 | — | 5 | 1 |
| DBA-1 | RPS19+ | 2 | 1.2 |
| DBA-2 | RPS19+ | 2 | 1.2 |
| DBA-3 | RPS19+ | 2 | 1.2 |
| DBA-4 | RPS19+ | 2 | 1.2 |
| DBA-5 | RPS19+ | 2 | 0.8 |
| DBA-6 | RPS19+ | 2 | 0.9 |
| DBA-7 | RPS19−/breakpoint intron 3 | 2 | 3.1 |
| DBA-8 | RPS19−/complete deletion | 4 | 3.3 |
| DBA-9 | RPS19−/frameshift | 2 | 3.8 |
| Clinical status* . | RPS19† . | No. sample runs‡ . | 21S/18SE ratio§ . |
|---|---|---|---|
| Control-1 | — | 2 | 1.3 |
| Control-2 | — | 5 | 1 |
| DBA-1 | RPS19+ | 2 | 1.2 |
| DBA-2 | RPS19+ | 2 | 1.2 |
| DBA-3 | RPS19+ | 2 | 1.2 |
| DBA-4 | RPS19+ | 2 | 1.2 |
| DBA-5 | RPS19+ | 2 | 0.8 |
| DBA-6 | RPS19+ | 2 | 0.9 |
| DBA-7 | RPS19−/breakpoint intron 3 | 2 | 3.1 |
| DBA-8 | RPS19−/complete deletion | 4 | 3.3 |
| DBA-9 | RPS19−/frameshift | 2 | 3.8 |
Comparison of the DBA RPS19+ patient group data sets (rows 3-7) with the control group (rows 1-2) data sets: P = .5; DBA RPS19− patient group data sets (rows 8-11) with the control group: P < .001.
— indicates not sequenced.
Patients diagnosed with DBA are listed as DBA-1 to DBA-9.
The RPS19 gene was sequenced in each DBA patient. RPS19+ indicates no mutations were found. RPS19− indicates mutations were found and the nature of the mutation.
The 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.