Comparison of different techniques for detecting 17p12 duplication in CMT1A

Alessandra Patitucci, Maria Muglia, Angela Magariello, Anna Lia Gabriele, Giuseppina Peluso, Teresa Sprovieri, Francesca Luisa Conforti, Rosalucia Mazzei, Carmine Ungaro, Francesca Condino, Paola Valentino, Franco Bono, Carmelo Rodolico, Anna Mazzeo, Antonio Toscano, Giuseppe Vita, Aldo Quattrone

Research output: Contribution to journalArticlepeer-review


Charcot-Marie-Tooth type 1A is caused by a 1.5 Mb DNA duplication in the 17p12 chromosomal region encompassing the peripheral myelin protein 22 gene. In the present study, we compared the Real-Time PCR with the other methods currently used for the diagnosis of Charcot-Marie-Tooth. By using a combination of junction fragment PCR, analysis of microsatellite markers, and pulsed field gel electrophoresis, we identified 76 unrelated patients with 17p12 duplication. In these patients, junction fragment PCR detected 63% of cases of duplication, the microsatellite markers method revealed 74%, while the combined use of microsatellite markers and junction fragment PCR revealed 91% of cases of Charcot-Marie-Tooth type 1A. Pulsed field gel electrophoresis detected 100% of the cases with duplication, even in presence of atypical 17p12 duplication. Real-Time PCR detected 100% of the cases with Charcot-Marie-Tooth type 1A and was comparable to pulsed field gel electrophoresis. However, in contrast to pulsed field gel electrophoresis, Real-Time PCR does not need fresh blood, minimizes diagnosis time and cost, and thus can be easily used for the molecular diagnosis of Charcot-Marie-Tooth type 1A.

Original languageEnglish
Pages (from-to)488-492
Number of pages5
JournalNeuromuscular Disorders
Issue number7
Publication statusPublished - Jul 2005


  • CMT1A
  • PFGE
  • Real-Time PCR

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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