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Table I.

Characterization of Sμ–Sα and Sμ–Sγ junctionsa



Perfectly matched homology

Imperfect repeats (with one mismatch)



≥1 bp
≥4 bp
≥7 bp
≥10 bp
≥4/5 bp
≥7/8 bp
≥10/11 bp
≥15/16 bp
1-bp insertion
Total no. of
 S junctions
Sμ–Sα junctions           
Controls 90 (58%) 31 (20%) 16 (10%) 5 (3%) 63 (41%) 34 (22%) 17 (11%) 3 (2%) 39 (25%) 154 
Lig4D 29 (97%) 22 (73%) 18 (60%) 14 (47%) 25 (83%) 24 (80%) 24 (80%) 16 (53%) 1 (3%) 30 
Sμ–Sγ junctions           
Controls 40 (68%) 3 (5%) 0 (0%) 0 (0%) 10 (17%) 2 (3%) 0 (0%) 0 (0%) 6 (10%) 59 
Lig4D
 
19 (56%)
 
4 (12%)
 
0 (0%)
 
0 (0%)
 
12 (35%)
 
3 (9%)
 
0 (0%)
 
0 (0%)
 
11 (32%)
 
34
 


Perfectly matched homology

Imperfect repeats (with one mismatch)



≥1 bp
≥4 bp
≥7 bp
≥10 bp
≥4/5 bp
≥7/8 bp
≥10/11 bp
≥15/16 bp
1-bp insertion
Total no. of
 S junctions
Sμ–Sα junctions           
Controls 90 (58%) 31 (20%) 16 (10%) 5 (3%) 63 (41%) 34 (22%) 17 (11%) 3 (2%) 39 (25%) 154 
Lig4D 29 (97%) 22 (73%) 18 (60%) 14 (47%) 25 (83%) 24 (80%) 24 (80%) 16 (53%) 1 (3%) 30 
Sμ–Sγ junctions           
Controls 40 (68%) 3 (5%) 0 (0%) 0 (0%) 10 (17%) 2 (3%) 0 (0%) 0 (0%) 6 (10%) 59 
Lig4D
 
19 (56%)
 
4 (12%)
 
0 (0%)
 
0 (0%)
 
12 (35%)
 
3 (9%)
 
0 (0%)
 
0 (0%)
 
11 (32%)
 
34
 
a

Statistical analysis was performed using χ2 test, comparing the number of junctions from the Lig4D patients with the corresponding category of junctions from normal controls. For Sμ–Sα junctions, in all categories, significant differences (P < 0.001) between patients (bold numbers) and controls were observed. For Sμ–Sγ junctions, a significant difference (P < 0.05) between patients and controls was observed only in the category with 1-bp insertion (bold). Parts of the data from controls have been described previously (references 9–11). The Sμ–Sα and Sμ–Sγ junctions were derived from 17 and 33 normal controls, respectively.

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