(last modified October 14, 2004)
Below an overview of the deletions/duplications that have been detected in the DMD-gene in DMD and BMD patients in Leuven (België). The changes have been contributed by dr. Gert Matthijs in collaboration with Annemie Meertens (Center for Human Genetics, University of Leuven; full address). The changes have been included in the DMD-gene deletion/duplication database.
Of the DMD / BMD patients analysed 121 contained a detectable change; 99 a deletion, 11 a duplication, 1 a triplication and 10 a point mutation (see DMD-gene point mutation database).
| Exons involved | deletion | duplication | triplication |
|---|---|---|---|
| cDNA9-7 | 1 | ||
| 2 | 1 | ||
| 2 - 7 | 2 | ||
| (?2) 3 - 8 (11?) | 1 | ||
| 3 - 6 | 1 | ||
| 3 - 8 | 1 | ||
| 3 - 11 | 1 | ||
| 3 - 13 | 1 | ||
| 5 | 1 | ||
| 5 - 11 | 1 | ||
| 6 | 1 | ||
| 6 - 7 | 1 | ||
| 6 - 18 | 1 | ||
| 6 - 19 | 1 | ||
| 6 - 28 | 1 | ||
| 7 | 1 | ||
| 8 | 1 | ||
| 8 - 9 | 1 | 2 | |
| 8 - 41 | 1 | ||
| 8 - 52 | 1 | ||
| 12 - 15 | 1 | ||
| 12 - 19 | 1 | ||
| 13 - 19 | 1 | ||
| 14 - 15 | 1 | ||
| 17 | 1 | ||
| 17 - 43 | 1 | ||
| 20 - 34 | 1 | ||
| cDNA4.5a/5b-7 | 1 | ||
| cDNA5b-7/8 | 1 | ||
| 43 | 1 | ||
| 44 | 4 | ||
| 44 - 50 | 3 | ||
| 44 - 53 | 1 | ||
| 45 | 4 | ||
| 45 - 47 | 4 | ||
| 45 - 48 | 5 | ||
| 45 - 50 | 2 | ||
| 45 - 52 | 2 | ||
| 46 - 48 | 1 | ||
| 46 - 50 | 2 | ||
| 46 - 55 | 1 | ||
| 46 - 79 | 1 | ||
| cDNA8 | 5 | ||
| cDNA8/cf56b | 3 | ||
| cDNA56cfb | 1 | ||
| 47 - 48 | 1 | ||
| 47 - 50 | 7 (1 junction) |
||
| 47 - 51 | 1 | ||
| 47 - 52 | 1 | ||
| 47 - 53 | 1 | ||
| 48 | 6 | ||
| 48 - 50 | 4 | ||
| 48 - 52 | 2 | ||
| 48 - 54 | 1 | ||
| DMD49 | 1 | ||
| 49 | 1 | ||
| 49 - 50 | 1 | ||
| 50 | 2 | ||
| 50 - 52 | 2 | ||
| 51 | 2 | ||
| 52 | 1 | ||
| 53 - 55 | 1 | ||
| 53 - 57 | 1 | ||
| 61 - 65 | 1 | ||
| 62 - 76 | 1 | ||
| 64 - 79 | 1 |
Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Leuven (België). Deletions
were detected initially using multiplex PCR (Chamberlain and Beggs sets)
and Southern blotting. Recently, DMD-gene
MLPA analysis was used to detect deletions and duplications. For cDNA
descriptions see DMD cDNA probes.
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