(last modified July, 2004)
In total 166 unrelated patients from Serbia and Montenegro (Yugoslavia) were screened by the Mother and Child Health Institute of Serbia, Belgrade; 92 (55%) contained deletions while 74 (45%) contained no detectable deletion.
In total 44 unrelated patients from Serbia and Montenegro (Yugoslavia) were screened by the Faculty of Medicine, Belgrade; 16 (36%) contained deletions while 28 (64%) contained no detectable deletion.
All mutations have been included in the DMD/BMD deletion/duplication database.
| Phenotype | Deletions | Duplications | No detectable deletion |
Total |
|---|---|---|---|---|
| DMD Mother and Child Health Institute of Serbia | 84 | ? | 74 | 166 |
| BMD Mother and Child Health Institute of Serbia | 8 | ? | ||
| DMD Faculty of Medicine | 8 | ? | 28 | 44 |
| BMD Faculty of Medicine | 8 | ? | ||
| Total | 108 | ? | 102 | 210 |
Please note: Six of the BMD mutations below have been reported by I. Novakovic et al., ICHG-meeting 2001, Wien, Abstract P1500. Eur.J.Hum.Genet. 9: 395 (E-mail: llukovic@eunet.yu).
| deleted exons | in DMD | in BMD |
|---|---|---|
| Pm - Pb | 1 | |
| (2- ?) 3 - 6 (-7 ?) | 3 | 2 |
| (2- ?) 3 - 8 | 1 | |
| (2- ?) 3 - 16 | 1 | |
| (2- ?) 3 - 19 (-29 ?) | 4 | |
| (2- ?) 3 - 44 | 1 | |
| (5- ?) 6 (-7 ?) | 1 | |
| (5- ?) 6 - 19 (-29 ?) | 1 | |
| (7- ?) 8 - 13 (-15 ?) | 1 | |
| (7- ?) 8 - 19 (-29 ?) | 1 | |
| (10- ?) 12 - 43 | 1 | |
| 13 (-15 ?) | 1 | |
| 13 - 42 | 1 | |
| (20- ?) 30 - 41 | 1 | |
| 42 - 43 | 1 | |
| 44 | 5 | |
| 44 - 47 | 2 | |
| 45 | 3 | 1 |
| 45 - 46 | 1 | |
| 45 - 47 | 4 | |
| 45 - 49 | 1 | |
| 45 - 52 | 2 | |
| 45 - 53 (-59 ?) | 2 | |
| 46 - 47 | 3 | |
| 46 - 50 | 2 | |
| 46 - 51 | 2 | |
| 46 - 52 | 2 | 1 |
| 47 | 2 | |
| 47 - 50 | 1 | |
| 47 - 51 | 1 | |
| 47 - 53 (-59 ?) | 1 | |
| 48 - 49 | 1 | |
| 48 - 50 | 6 | |
| 48 - 52 | 2 | |
| 48 - 53 (-59 ?) | 1 | |
| 49 - 50 | 6 | |
| 49 - 52 | 2 | |
| 49 - 53 (-59 ?) | 1 | |
| 50 | 2 | |
| 50 - 52 | 1 | |
| 50 - 53 (-59 ?) | 2 | |
| 51 | 5 | |
| 51 - 53 (-59 ?) | 1 | |
| 52 | 2 | |
| 53 (-59 ?) | 2 |
Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Serbia and Montenegro (Yugoslavia). In a total of 166 patients, 92 patients (55%) were found to have deletions.
Deletions were detected using 27-exon multiplex PCR (Chamberlain, Beggs, Kunkel and Abbs sets) and PCR for exons 9, 17 and 30.
| deleted exons |
duplicated exons |
in DMD | (B/DMD) | in BMD |
|---|---|---|---|---|
| Pm - 19 (-29 ?) | 1 | |||
| 3 - 4 | 1 | |||
| 5 - 9 | 1 | |||
| 9 - 12 | 1 | |||
| 13 | 1 | |||
| 44 | 1 | |||
| 45 | 1 | |||
| 45 - 47 | 2 | |||
| 45 - 48 | 1 | |||
| 45 - 53 | 2 | |||
| 46 - 50 | 2 | |||
| 46 - 53 (-59 ?) | 1 | |||
| 49 - 50 | 1 | |||
| 51 - 53 (-59 ?) | 2 | |||
| 53 | 1 | |||
| 65 - 67 | 1 |
Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Serbia and Montenegro (Yugoslavia).
Deletions were detected using 27-exon multiplex PCR (Chamberlain, Beggs, Kunkel and Abbs sets) and PCR for exons 9, 17 and 30.
Some of the patients were analysed using MAPH/MLPA.
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