A PCR-based protocol to accurately size C9orf72 intermediate-length alleles

Giorgio Biasiotto, Silvana Archetti, Diego Di Lorenzo, Francesca Merola, Giulia Paiardi, Barbara Borroni, Antonella Alberici, Alessandro Padovani, Massimiliano Filosto, Cristian Bonvicini, Luigi Caimi, Isabella Zanella

Research output: Contribution to journalArticlepeer-review


Although large expansions of the non-coding GGGGCC repeat in . C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions.

Original languageEnglish
JournalMolecular and Cellular Probes
Publication statusE-pub ahead of print - Oct 17 2016


  • Amyotrophic lateral sclerosis
  • C9orf72 expansion
  • Frontotemporal lobar degeneration
  • Intermediate-length hexanucleotide repeats
  • Parkinsonism
  • Repeat-primed PCR

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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