Skip to Main Content
Table II.

Characterization of Sμ–Sα and Sμ–Sγ junctionsab


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
 
     
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 
a

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.

b

The data from DNA ligase IV– and ATM-deficient patients and the adult controls have previously been partially described (11, 26, 30).

c

The Sμ–Sγ junctions were obtained from patient AKE.

Close Modal

or Create an Account

Close Modal
Close Modal