(last modified July 3, 2004)
Below an overview of the deletions that have been detected in the DMD-gene in DMD and BMD patients in Argentina. The changes have been contributed by F. Giliberto (full address). All deletions have been included in the DMD/BMD deletion/duplication database.
In total 174 unrelated patients were screened; 84 (48%) contained deletions.
| Phenotype | Deletions | Duplications | No detectable deletion |
Total |
|---|---|---|---|---|
| DMD | 76 (46%) | 99 | 165 | |
| IMD | 1 | 0 | 1 | |
| BMD | 7 (88%) | 1 | 8 | |
| Total | 84 (48%) | - | 174 |
| Deletion | DMD patients |
BMD patients |
IMD patients |
|---|---|---|---|
| 1 - 19 | 1 | ||
| 3 - 5 | 1 | ||
| 3 - 12 | 1 | 1 | |
| (3 ?) 8 - 12 | 1 | ||
| 3 - 13 (16 ?) | 1 | ||
| 3 - 17 | 1 | ||
| 3 - 19 | 4 | 1 | |
| (2?) 3 - 19 (42?) | 1 | ||
| 3 - 43 | 1 | ||
| 4 - 18 | 1 | ||
| 8 | 2 | ||
| 8 - 11 | 1 | ||
| 8 - 13 | 1 | ||
| 8 - 17 | 1 | ||
| (7? ) 8 - 17 (18 ?) | 1 | ||
| 8 - 42 | 1 | ||
| 8 - 43 | 1 | ||
| 11 - 17 | 1 | ||
| (10 ?) 12 - 19 | 1 | ||
| 12 - 44 | 1 | ||
| 13 - 17 | 1 | ||
| (14? -) 17 (-18?) | 1 | ||
| 17 - 19 | 1 | ||
| (9?) 17 - 19 (43?) | 1 | ||
| 18 - 19 (42 ?) | 1 | ||
| (18? -) 19-21 (-42?) | 1 | ||
| 18 - 25 | 1 | ||
| (20 ?) 41 - 43 | 1 | ||
| 41 - 43 | 1 | ||
| 42 - 43 | 1 | ||
| (20?) 43 - 51 (59?) | 1 | ||
| 44 | 2 | ||
| 45 | 4 | ||
| 45 (-46?) | 1 | ||
| 45 - 47 | 3 | ||
| 45 - 50 | 1 | ||
| 45 - 51 (59?) | 1 | ||
| 45 - 52 (59?) | 1 | ||
| 45 - 68 | 1 | ||
| 46 - 48 | 2 | ||
| 46 - 50 | 3 | ||
| 46 - 51 | 1 | ||
| 47 - 48 | 1 | ||
| (46?) 47 - 48 (49?) | 1 | ||
| (46?) 47 - 50 | 1 | ||
| (46?) 47 - 51 (59?) | 1 | ||
| 48 | 2 | 1 | |
| 48 - 49 | 1 | ||
| 48 - 50 | 1 | ||
| 48 - 52 | 1 | ||
| 48 - 52 (59?) | 1 | ||
| 48 - 61 | 1 | ||
| 49 | 1 | ||
| 49 - 50 | 3 | ||
| 49 (- 79?) | 1 | ||
| (48?) 50 | 1 | ||
| (49?) 50 | 1 | ||
| 50 | 1 | ||
| 50 - 52 | 1 | ||
| 51 | 4 | ||
| 51 - 53 | 1 | ||
| 51 - 57 | 1 | ||
| 52 | 2 | ||
| 61 (-79 ?) | 1 |
Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Argentina. Deletions
were detected using multiplex PCR (Set I: exons 8, 17, 44 and 48; Set II:
exons 19, 45, 51 and 52; Set III: exons Pm, 3, 4 and 13; Set IV: exons
43, 47, 50 and 60), based on
the 18-exon Chamberlain and Beggs sets. In cases
where no deletion was detected, exons 6, 42, 53 and 79 were PCR-ed individually.
Once a deletion was found, single-exon amplications were
carried out to determine the exons deleted (Giliberto
et al., 2004). Some of the deletions haven been published (Giliberto
et al., 2004), others have been submitted directly to the database. All deletions have been
included in the DMD/BMD deletion/duplication database.
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