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Updated: Jul 16, 2026
Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
[Identification of deletion/duplication mutations in DMD gene by multiple ligation probe amplification and denaturing
Ben-Chang Shen1, Cheng Zhang, Xiao-Fang Sun
1Department of Medical Genetics and Cell Biology, School of Basic Science, Guangzhou Medical College, Guangzhou 510182, China.
Objective:
To compare the effectiveness of using multiple ligation probe amplification (MLPA) and denaturing high-performance liquid chromatography (DHPLC) in screening the exon deletions and duplications of the DMD gene.
Methods:
MLPA technique was applied to detect exon deletions and duplications previously confirmed by denaturing high-performance liquid chromatography (DHPLC).
Results:
From October 2004 to October 2005, 22 unrelated DMD probands and their possible female relatives with clinical diagnosis with dystrophinopathy at our hospital entered this study. Both DHPLC and MPLA detected DMD gene depletion in 11 probands and DMD duplications in 3 probands. MLPA detected deletions and duplications in 2 probands, which were not detected by DHPLC. MLPA also successfully identified the carriage status of the potential female carriers of the probands.
Conclusion:
Compared with DHPLC and traditional PCR techniques, MLPA is a superior tool to analyze the deletions and duplications in affected males as well as in the identification of the carriage status of potential females carriers.
