Abstract:
Objective: To study the efficient、fast and simple method to be used in the carrier detections of DMD/BMD.
Methods: We developed the method of duplex quantitative PCR approach and DQ value to detecte deletion carriers of DMD/BMD. Parts of the results were compared with Short Tandem Repeat sequence PCR (STRs PCR) method and CK value.
Results: We determined the normal and abnormal reference value with analyses of 7 obligated deletion carriers, 21 possible carriers and 26 normal female controls, and found entire coordinate in 8 female relatives whose status had been determined by STRs analysis. It has been shown that quantitative PCR is more sensitive than that of CK value.
Conclusion: The quantitative duplex PCR assay is suitable for routine application.