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Table III.

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%) 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%) 900 6.7 
ATM−/− 1 versus 5 (17 vs. 83%) 1 (17%) 4 (67%) 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%) 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%) 900 6.7 
ATM−/− 1 versus 5 (17 vs. 83%) 1 (17%) 4 (67%) 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 
a

Statistical analysis was performed using χ2 test. Statistically significant differences are shown in bold. * P < 0.05; ** P < 0.01; *** P < 0.001.

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