[Advances in repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions]

Yi Chuan. 2014 Nov;36(11):1145-51.
[Article in Chinese]


Dynamic mutation diseases are genetic diseases caused by unstable repeat expansions in coding region or noncoding region. The unstable repeat expansions located in the noncoding region usually perform as large expansions which the standard PCR assay is difficult to amplify. Traditional detection methods, including Southern blot, are supposed to be time-consuming and labor-wasting. A new method called fluorescent repeat-primed PCR assay was brought into genetic diagnosis. Here, we reviewed the advances in repeat-primed PCR assay for the genetic diagnoses of myotonic dystrophy, Friedreich's ataxia, SCA10, and amyotrophic lateral sclerosis or frontotemporal dementia caused by C9 or f72 mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ataxin-10
  • C9orf72 Protein
  • Genetic Diseases, Inborn / diagnosis*
  • Humans
  • Mutation*
  • Nerve Tissue Proteins / genetics
  • Polymerase Chain Reaction / methods*
  • Proteins / genetics


  • ATXN10 protein, human
  • Ataxin-10
  • C9orf72 Protein
  • C9orf72 protein, human
  • Nerve Tissue Proteins
  • Proteins