[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.