[Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].

OBJECTIVE

To detect genomic deletion and duplication mutations in the dystrophin gene of the Duchenne muscular dystrophy (DMD) patients and their potential female carriers.

METHODS

Genomic deletions and duplications of the DMD gene in 32 affected males and 27 potential female carriers were screened by mutiplex ligation-dependent probe amplification (MLPA).

RESULTS

Of the 32 investigated affected males, 24 were detected to have deletions of one or more exons of the DMD gene, 1 patient had a duplication from exon 5 to 55, 1 patient had a nonsense point mutation (R768X) in exon 19, the other 6 affected males were predicted to have possible disease-causing point mutations. MLPA analysis showed a DMD deletion or duplication in 18 female relatives, and the female carriers had the same deletion or duplication as their probands, respectively.

CONCLUSION

MLPA analysis is proven to be an efficient tool for identification of both affected males and female carriers of DMD rearrangements in cases in which the disease-causing mutation in the affected male was not known. It could provide useful information for the genetic counseling of the family involved.