Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis

Lucia Anna Muscarella, Maria Rosaria Piemontese, Raffaela Barbano, Antonina Fazio, Vito Guarnieri, Alessandro Quattrone, Leopoldo Zelante

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the dystrophin gene result in both Duchenne and Becher muscular dystrophies (DMD and BMD). Approximately 65% of all mutations causing DMD are deletions (60%) or duplications (5%) of large segments of this gene, spanning one exon or more. Due to the large size of the dystrophin gene (79 exons), finding point mutations has been prohibitively expensive and laborious. Recent studies confirm the utility of pre-screening methods, as denaturing high-performance liquid chromatography (DHPLC) analysis in the identification of point mutations in the dystrophin gene, with an increment of mutation detection rate from 65% to more than 92%. Here we suggest an alternative and convenient method of DHPLC analysis in order to find mutations in a more rapid and less expensive way by introducing the analysis of 16 couples of dystrophin amplicons, in biplex exons DHPLC runs. Using this new protocol of biplex exons DHPLC screening, new mutations were identified in four male patients affected by DMD who had tested negative for large DNA rearrangements.

Original languageEnglish
Pages (from-to)231-236
Number of pages6
JournalBiomolecular Engineering
Volume24
Issue number2
DOIs
Publication statusPublished - Jun 2007

Keywords

  • DHPLC analysis
  • DMD
  • Dystrophin
  • Mutation screening

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Bioengineering

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