Detection of the gene-deleted female carriers of Duchenne/Becker muscular dystrophy using a fluorescent in situ hybridization based method

Objective: To set up a fluorescent in situ hybridization (FISH) based method to detect the gene-deleted female carriers of Duchenne/Becker muscular dystrophy (DMD/BMD). Methods: Multiplex polymerase chain reaction was used to identify the gene deletion DMD/BMD probands and their female relatives were checked by double-color FISH. Results: Two probands whose exon 46 of dystrophin gene was deleted, one had a positive pedigree and the other was a sporatic patient. In the case of the positive pedigree, four carriers were detected. In the case of the sporatic family, FISH showed that the mother of the proband was a somatic mosaicism. Conclusion: Combined with multiplex PCR, double-color FISH is a simple, fast, directly visual and accurate method. It is feasible to identify the carrier status of the female relatives of the gene deletion DMD/ BMD probands. The detection of the somatic mosaicism is a prominent feature of FISH.