(last modified July 8, 2003)
Below an overview of the deletions that have been detected in the DMD-gene in DMD and BMD patients in Sofia (Bulgaria). The changes have been contributed by dr. Albena Todorova (Laboratory of Molecular Pathology, Hospital of Obstetrics and Gynaecology; full address). All deletions have been included in the DMD/BMD deletion/duplication database.
In total 183 unrelated patients were screened; 122 (67%) contained deletions while 61 (33%) contained no detectable deletion.
| Phenotype | Deletions | Duplications | No detectable deletion |
Total |
|---|---|---|---|---|
| DMD | 92 | ? | 61 | |
| IMD | 6 | ? | ||
| BMD | 24 | ? | ||
| Total | 122 | ? | 61 | 183 |
| Deletion | DMD patients |
BMD patients |
IMD patients |
|---|---|---|---|
| 1 | 1 | ||
| 1-47 | 1 | ||
| 3 | 1 | 1 | |
| 3-7 | 1 | 1 | 1 |
| 3-11 | 1 | ||
| 3-21 (-24 ?) | 1 | ||
| 4-12 | 1 | ||
| 5-6 | 1 | ||
| 6 | 1 | ||
| 6-7 | 1 | ||
| (7? -) 8-43 | 1 | ||
| 8-42 | 1 | ||
| 11-44 | 1 | ||
| 12-29 (-31?) | 1 | ||
| 12-34 (-40?) | 1 | ||
| 12-43 | 1 | ||
| 12-45 | 1 | ||
| 13-50 | 1 | ||
| (14? -) 17 (-18?) | 1 | ||
| 17 (-18?) | 1 | ||
| (18? -) 19-21 (-42?) | 1 | ||
| (18? -) 19 (-20?) | 1 | ||
| (30? -) 32-43 | 1 | ||
| (35? -) 41-45 | 1 | ||
| 42-43 | 1 | ||
| 44 | 5 | ||
| 45 | 2 | ||
| 45 (-46 ?) | 1 | ||
| 45-47 | 6 | ||
| 45-48 | 7 | ||
| 45-49 | 2 | ||
| 45-50 | 3 | ||
| 45-51 | 1 | 1 | 1 |
| 45-52 | 3 | ||
| 45-52 (-59 ?) | 1 | ||
| 45-54 | 2 | ||
| 46-50 | 1 | ||
| 46-51 | 2 | ||
| (46?- ) 47 | 1 | ||
| (46? -) 47-50 | 1 | ||
| (46? -) 47-51 | 1 | 1 | |
| (46? -) 47-54 (-59 ?) | 1 | ||
| 47-50 | 1 | ||
| 48 | 1 | 1 | |
| 48-50 | 7 | 1 | |
| 48-51 | 3 | ||
| 49-50 | 8 | ||
| 49-51 | 3 | ||
| 49-52 | 3 | ||
| 49-54 | 1 | ||
| 50 | 2 | ||
| 50-52 | 3 | ||
| 51 | 4 | 1 | |
| 51-52 | 4 | ||
| 51-54 | 1 | ||
| 51-55 | 1 | ||
| 52 | 4 | ||
| 53 | 1 | ||
| 53-54 | 1 |
Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Sofia (Bulgaria). Deletions
were detected using multiplex PCR (Set I: exons 3, 6, 8, 45, 48 and 50; Set II:
exons 4, 12, 13, 17, 19 and 60; Set III: exons 43, 44, 47, 49, 51 and 52), based on
the 18-exon Chamberlain and Beggs sets. In addition, to
determine deletion borders in specific cases, presence of exon(s) 1m, 2, 5, 7, 9, 10, 11,
16, 21, 25, 29, 32, 34, 41, 42, 46, 53, 54, 55, 56, 57 or 59 was tested directly in a PCR.
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