Mutations in recombined Sμ–Sα fragmentsa
. | No. of mutations . | . | . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|
| AT versus GC mutations % | Transitions % | In RGYW/ WRCY motifs % | Total no. of mutations | No. of bp sequenced | Frequency (per 1,000 bp) | |||
| Close to the junction (±15 bp) | ||||||||
| Artemis−/− | 8 versus 1 (89 vs. 11%)*** | 5 (56%) | 5 (56%) | 9 | 1,620 | 5.6* | ||
| Controls (1-6 y) | 13 versus 38 (25 vs. 75%) | 27 (53%) | 28 (55%) | 51 | 4,110 | 12.4 | ||
| Ligase IV−/− | 1 versus 5 (17 vs. 83%) | 2 (33%) | 5 (83%) | 6 | 900 | 6.7 | ||
| ATM−/− | 1 versus 5 (17 vs. 83%) | 1 (17%) | 4 (67%) | 6 | 1,320 | 4.5** | ||
| Controls (adults) | 11 versus 56 (16 vs. 84%) | 30 (45%) | 53 (79%) | 67 | 4,590 | 14.6 | ||
| Within Sμ (>15 bp upstream of the junction) | ||||||||
| Artemis−/− | 38 versus 28 (58 vs. 42%)*** | 43 (65%) | 37 (56%)* | 66 | 15,508 | 4.3 | ||
| Controls (1-6 yr) | 42 versus 59 (30 vs. 70%) | 95 (67%) | 101 (72%) | 141 | 26,569 | 5.3 | ||
| Ligase IV−/− | 10 versus 8 (56 vs. 44%) | 14 (78%) | 13 (72%) | 18 | 9,749 | 1.8*** | ||
| ATM−/− | 20 versus 16 (56 vs. 44%)* | 31 (86%)** | 24 (67%) | 36 | 1,1993 | 3.0** | ||
| Controls (adults) | 62 versus 105 (37 vs. 63%) | 99 (59%) | 117 (70%) | 167 | 31,502 | 5.3 | ||
. | No. of mutations . | . | . | . | . | . | ||
|---|---|---|---|---|---|---|---|---|
| AT versus GC mutations % | Transitions % | In RGYW/ WRCY motifs % | Total no. of mutations | No. of bp sequenced | Frequency (per 1,000 bp) | |||
| Close to the junction (±15 bp) | ||||||||
| Artemis−/− | 8 versus 1 (89 vs. 11%)*** | 5 (56%) | 5 (56%) | 9 | 1,620 | 5.6* | ||
| Controls (1-6 y) | 13 versus 38 (25 vs. 75%) | 27 (53%) | 28 (55%) | 51 | 4,110 | 12.4 | ||
| Ligase IV−/− | 1 versus 5 (17 vs. 83%) | 2 (33%) | 5 (83%) | 6 | 900 | 6.7 | ||
| ATM−/− | 1 versus 5 (17 vs. 83%) | 1 (17%) | 4 (67%) | 6 | 1,320 | 4.5** | ||
| Controls (adults) | 11 versus 56 (16 vs. 84%) | 30 (45%) | 53 (79%) | 67 | 4,590 | 14.6 | ||
| Within Sμ (>15 bp upstream of the junction) | ||||||||
| Artemis−/− | 38 versus 28 (58 vs. 42%)*** | 43 (65%) | 37 (56%)* | 66 | 15,508 | 4.3 | ||
| Controls (1-6 yr) | 42 versus 59 (30 vs. 70%) | 95 (67%) | 101 (72%) | 141 | 26,569 | 5.3 | ||
| Ligase IV−/− | 10 versus 8 (56 vs. 44%) | 14 (78%) | 13 (72%) | 18 | 9,749 | 1.8*** | ||
| ATM−/− | 20 versus 16 (56 vs. 44%)* | 31 (86%)** | 24 (67%) | 36 | 1,1993 | 3.0** | ||
| Controls (adults) | 62 versus 105 (37 vs. 63%) | 99 (59%) | 117 (70%) | 167 | 31,502 | 5.3 | ||
Statistical analysis was performed using χ2 test. Statistically significant differences are shown in bold. * P < 0.05; ** P < 0.01; *** P < 0.001.