| Perfectly matched short homology | Total no. of S fragments | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 bp | 1-3 bp | 4–6 bp | 7–9 bp | ≥10 bp | ||||||||
| 1-bp insertions | No insertions | |||||||||||
| Sμ–Sα | ||||||||||||
| Artemis−/− | 6 (11%)* | 0 (0%)** | 10 (19%) | 8 (15%) | 9 (17%) | 21 (39%)*** | 54 | |||||
| Controls (1-6 y) | 34 (25%) | 24 (18%) | 25 (18%) | 21 (15%) | 11 (8%) | 22 (16%) | 137 | |||||
| Ligase IV−/− | 1 (3%)** | 0 (0%)*** | 7 (23%) | 4 (13%) | 4 (13%) | 14 (47%)*** | 30 | |||||
| ATM−/− | 1 (2%)*** | 1 (2%)** | 15 (34%) | 9 (20%) | 5 (11%) | 13 (30%)*** | 44 | |||||
| Controls (adults) | 39 (25%) | 28 (18%) | 56 (36%) | 15 (10%) | 11 (7%) | 5 (3%) | 154 | |||||
| Sμ–Sγ | ||||||||||||
| Artemis−/−c | 4 (17%) | 5 (21%) | 14 (58%) | 1 (4%) | 0 (0%) | 0 (0%) | 24 | |||||
| Controls (1-6 y) | 9 (16%) | 13 (22%) | 26 (45%) | 10 (17%) | 0 (0%) | 0 (0%) | 58 | |||||
| Ligase IV−/− | 11 (32%)* | 4 (12%) | 15 (44%) | 4 (12%) | 0 (0%) | 0 (0%) | 34 | |||||
| ATM−/− | 3 (8%) | 3 (8%) | 23 (61%) | 7 (18%)* | 2 (5%) | 0 (0%) | 38 | |||||
| Controls (adults) | 7 (12%) | 12 (20%) | 37 (63%) | 3 (5%) | 0 (0%) | 0 (0%) | 59 | |||||
| Perfectly matched short homology | Total no. of S fragments | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 bp | 1-3 bp | 4–6 bp | 7–9 bp | ≥10 bp | ||||||||
| 1-bp insertions | No insertions | |||||||||||
| Artemis−/− | 10 (19%) | 8 (15%) | 9 (17%) | 54 | ||||||||
| Controls (1-6 y) | 34 (25%) | 24 (18%) | 25 (18%) | 21 (15%) | 11 (8%) | 22 (16%) | 137 | |||||
| Ligase IV−/− | 7 (23%) | 4 (13%) | 4 (13%) | 30 | ||||||||
| ATM−/− | 15 (34%) | 9 (20%) | 5 (11%) | 44 | ||||||||
| Controls (adults) | 39 (25%) | 28 (18%) | 56 (36%) | 15 (10%) | 11 (7%) | 5 (3%) | 154 | |||||
| Artemis−/− | 4 (17%) | 5 (21%) | 14 (58%) | 1 (4%) | 0 (0%) | 0 (0%) | 24 | |||||
| Controls (1-6 y) | 9 (16%) | 13 (22%) | 26 (45%) | 10 (17%) | 0 (0%) | 0 (0%) | 58 | |||||
| Ligase IV−/− | 4 (12%) | 15 (44%) | 4 (12%) | 0 (0%) | 0 (0%) | 34 | ||||||
| ATM−/− | 3 (8%) | 3 (8%) | 23 (61%) | 2 (5%) | 0 (0%) | 38 | ||||||
| Controls (adults) | 7 (12%) | 12 (20%) | 37 (63%) | 3 (5%) | 0 (0%) | 0 (0%) | 59 | |||||
The switch junctions from Artemis-deficient patients were compared with those from age matched controls (1-6 yr of age), whereas the switch junctions from DNA ligase IV– or ATM-deficient patients were compared with adult controls. Statistical analysis was performed using χ2 test. Statistically significant differences are shown in bold. * P < 0.05; ** P < 0.01; *** P < 0.001.
The data from DNA ligase IV– and ATM-deficient patients and the adult controls have previously been partially described (11, 26, 30).
The Sμ–Sγ junctions were obtained from patient AKE.
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