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The multiplex ligation-dependent probe amplification (MLPA) assay is designed to simultaneously screen all 79 DMD gene exons for copy number variation in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. Large deletions or duplications are found as mutations in >65% of DMD/BMD patients, making the MLPA assay a leading genetic diagnostic tool for patients and their families. This assay requires only standard molecular biology, PCR amplification equipment and access to a capillary electrophoresis instrument for sizing fluorescently labeled amplicons. MLPA is in wide use for copy number analysis of the dystrophin gene, with key reagents and software available through MRC Holland, the group that originated this quantitative multiplex PCR technique.

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Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene

  • 实验方案

  • 发表日期：

    2026年

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  • Diane M. Dunn,
  • Robert B. Weiss

摘要

The multiplex ligation-dependent probe amplification (MLPA) assay is designed to simultaneously screen all 79 DMD gene exons for copy number variation in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. Large deletions or duplications are found as mutations in >65% of DMD/BMD patients, making the MLPA assay a leading genetic diagnostic tool for patients and their families. This assay requires only standard molecular biology, PCR amplification equipment and access to a capillary electrophoresis instrument for sizing fluorescently labeled amplicons. MLPA is in wide use for copy number analysis of the dystrophin gene, with key reagents and software available through MRC Holland, the group that originated this quantitative multiplex PCR technique.