(last modified July 30, 2003)
In total 242 unrelated patients were screened from Turkey; 146 (60%) contained deletions while 96 (40%) contained no detectable deletion.
| Phenotype | Deletions | Duplications | No detectable deletion |
Total |
|---|---|---|---|---|
| DMD/BMD | 146 | ? | 96 | |
| Total | 146 | ? | 96 | 242 |
| deleted exons | times identified in DMD / BMD |
|---|---|
| 3 - 4 (5j) | 1 |
| 3 - 21 | 1 |
| 4 - 7 | 1 |
| 4 - 8 (9/10j) | 1 |
| 5 - 44 | 1 |
| (5j) 6 - 20 (-28 ?) | 1 |
| 7 - 11 | 1 |
| 7 - 17 (-18 ?) | 1 |
| 8 - 9 | 1 |
| 8 - 11 | 1 |
| 8 - 17 (-18 ?) | 1 |
| 8 - 19 | 1 |
| 8 - 20 (-28 ?) | 3 |
| 8 - 34 (-40 ?) | 1 |
| 8 - 44 | 1 |
| 9 - 10 | 2 |
| (9/10j) 11 - 19 | 1 |
| 12 - 16 | 1 |
| 13 (-15 ?) | 1 |
| (? 14-) 16 - 17 (-18 ?) | 1 |
| 17 - 49 | 1 |
| (? 18-) 19 - 20 (-28 ?) | 1 |
| (? 21-) 29 - 43 | 1 |
| (? 35-) 41 - 43 | 1 |
| 40 - 43 | 1 |
| 44 | 9 |
| 45 | 5 |
| 45 (46j) | 1 |
| 45 - 46 | 4 |
| 45 - 47 | 9 |
| 45 - 48 | 7 |
| 45 - 49 | 1 |
| 45 - 50 | 7 |
| 45 - 51 | 1 |
| 45 - 52 | 10 |
| 45 - 54 | 3 |
| 46 - 47 | 5 |
| 46 - 48 | 2 |
| 46 - 49 | 1 |
| 46 - 50 | 1 |
| 46 - 52 | 1 |
| 47 | 2 |
| 47 - 49 | 1 |
| 47 - 50 | 2 |
| 47 - 52 | 2 |
| 48 - 50 | 8 |
| 48 - 51 | 2 |
| 48 - 52 | 3 |
| 48 - 54 | 2 |
| 49 - 50 | 9 |
| 49 - 51 | 1 |
| 49 - 52 | 3 |
| 49 - 54 | 1 |
| 50 | 2 |
| 50 - 54 | 1 |
| 51 | 5 |
| 51 - 53 | 1 |
| 51 - 54 | 1 |
| 51 - 55 | 1 |
| 51 - 55 (-60 ?) | 1 |
| 52 | 2 |
| 52 - 53 | 1 |
Legend
146 DMD-gene deletions found in 242 unrelated DMD/BMD patients from the Turkish population.
"(5j)" indicates that the hybridising fragment of exon 5 has an
altered size (deletion junction fragment). Deletions were first detected using multiplex
PCR, i.e. 18-exon Chamberlain and Beggs
sets. A detailed characterisation was performed using cDNA hybridisations or
specific PCR for exons 2, 7, 11, 16, 20, 26, 29, 32, 34, 41, 46, 49, 53, 54 and
55. Reported by Onengut et al., (2000).
All mutations have been included in the DMD/BMD deletion/duplication database.
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