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  • Title: [Detection of the gene-deleted female carriers of Duchenne/Becker muscular dystrophy using a fluorescent in situ hybridization based method].
    Author: Qi QW, Sun NH, Hao N.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug; 20(4):350-2. PubMed ID: 12903051.
    Abstract:
    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.
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