Objective: To study the application of PCR technique in genetic detection of Duchenne/Becker muscular dystrophy (DMD/BMD).
Methods: A multiple PCR system is established according to the multiple sites of DMD/BMD exon deletion. Under different PCR conditions, multiple exon deletions, single-strand conformation polymorphism, allopolyploid, chain labeling, restriction fragment length polymorphism and microsatellite phenomenon were examined in 23 DMD/BMD patients and 57 suspected carriers of these genes.
Results: Fourteen of the 23 DMD/BMD patients were identified as having gene deletion, with another 2 carried gene duplicates. Forty female relatives of these 23 DMD/BMD patients were diagnosed as carriers of the genes.
Conclusion: This PCR system can be applied in detecting gene mutation of DMD/BMD, screening the carriers and in appropriate genealogical analysis of the patients with DMD/BMD.
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