Table 2.
AGG Interruption Profiles in PM Carriers
| Sample | Sex | Normal allele | PM allele |
|---|---|---|---|
| SC120A | M | NA | 97† |
| HT51A | F | 9A9A9 | 9A9A78 |
| C0001∗ | F | 19A9 | 10A98 |
| C0075∗ | F | 9A9A9 | 85, 91† |
| C0076 | F | 10A9A10 | 10A9A68 |
| C0138 | F | 9A12A9 | 10A9A84 |
| C0223 | F | 9A20 | 10A9AX‡ |
| C0317 | F | 9A9A9 | 9A116 |
| C0342 | F | 9A9A9 | 133† |
| C0366 | F | 9A9A9 | 10A9A120 |
| C0386∗ | F | 10A9A9 | 10AX§ |
| C0648 | F | 7A9A9 | 11A54 |
| F0655 | F | 9A12A9 | 105; 112† |
With the exception of the samples indicated with an asterisk, the number of interruptions determined in our assays was consistent with previously published data or results obtained in other laboratories using previously published assays (Stephanie Sherman, personal communication, June 3, 2017).9 The samples marked with an asterisk are those in which the results of the A-primed assay differed from the previous assays. In all three cases the previous results had been flagged as being of low confidence or the number of interruptions could not be determined. The results for these three samples were verified by our previously published assay for AGG interruptions9 and by the complete sequencing of clones of the normal allele and the 5′ end of PM alleles.
F, female; M, male; NA, not applicable; PM, premutation.
No interruptions.
Individual mosaic for a number of PM alleles all ≥110 repeats, that is, X ≥ 89.
Individual mosaic for a number of PM alleles all ≥126 repeats, that is, X ≥ 115.