Detection of the gene-deleted female carriers of Duchenne/Becker muscular dystrophy using a fluorescent in situ hybridization based method / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>Multiplex polymerase chain reaction was used to identify the gene deletion DMD/BMD probands and their female relatives were checked by double-color FISH.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>