Table 2.
Combined repeat size (bp) | (TG)v | (TCTG)w | (CCTG)x | (NCTG)y | (CCTG)z |
---|---|---|---|---|---|
v | w | x | y | z | |
134 | 21 | 8 | 5 | 3 | 7 |
21 | 8 | 5 | 3 | 7 | |
21 | 8 | 5 | 3 | 7 | |
21 | 8 | 5 | 3 | 7 | |
19 | 9 | 5 | 3 | 7 | |
19 | 9 | 5 | 3 | 7 | |
19 | 9 | 5 | 3 | 7 | |
19 | 9 | 5 | 3 | 7 | |
17 | 10 | 5 | 3 | 7 | |
17 | 10 | 5 | 3 | 7 | |
21 | 7 | 6 | 3 | 7 | |
19 | 8 | 6 | 3 | 7 | |
138 | 23 | 8 | 5 | 3 | 7 |
23 | 8 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
21 | 9 | 5 | 3 | 7 | |
19 | 10 | 5 | 3 | 7 | |
19 | 10 | 5 | 3 | 7 | |
19 | 10 | 5 | 3 | 7 | |
23 | 7 | 6 | 3 | 7 | |
21 | 8 | 6 | 3 | 7 | |
142 | 23 | 9 | 5 | 3 | 7 |
21 | 10 | 5 | 3 | 7 | |
21 | 10 | 5 | 3 | 7 | |
25 | 7 | 6 | 3 | 7 | |
152 | 22 | 8 | 8 | 5 | 6 |
156 | 22 | 9 | 8 | 5 | 6 |
168 | 18 | 10 | 23 | – | – |
Indices v, w, x, y, and z denote the number of the specific repeat elements. While y and z were constant (y = 3, z = 7) throughout all 31 patients with repeat sizes of 134, 138, or 142 bp, x was found to be binary with x = 5 being about five times more frequent than x = 6. In contrast, v and w were highly variable with v ranging from 17 to 25 and w ranging from 7 to 10 in all 34 patients. The interruption of the two CCTG tracts by (NCTG)y was found to comprise three tetraplets in the high abundance alleles and five in two of the three large normal alleles (152 and 156 bp). The largest allele of 168 bp showed no interruption (y = 0) but 23 contiguous CCTGs.