What is the role of multiplex polymerase chain reaction (PCR) assay in the evaluation of muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

The multiplex polymerase chain reaction (PCR) assay may be useful. PCR was developed by Chamberlain et al, [31] who noted that deletions of the dystrophin gene tend to cluster around two hot-spot regions: at exons 3-30 and at exons 44-55. [32]  The PCR method rapidly screens for deletions of the dystrophin gene by applying PCR to amplify the DNA in the hot-spot regions and by simultaneously using a number of appropriate primers that flank these hot-spot regions. PCR can be used to detect more than 98% of existing deletions, and it can be performed within 24 hours.


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