Leiden Muscular Dystrophy pages

Deletion mutations in DMD/BMD identified in Turkey

(last modified July 30, 2003)


Totals

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

Extent of deletions


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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