Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

Claudia Cagnoli, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L. Margolis, Susan E. Holmes, Cinzia Gellera, Nicola Migone, Alfredo Brusco

Research output: Contribution to journalArticlepeer-review

Abstract

At least 18 human genetic diseases are caused by expansion of short tandem repeats. Here we describe a successful application of a fluorescent PCR method for the detection of expanded repeats in FRDA1, SCA10, and SCA12 genes. Although this test cannot give a precise estimate of the size of the expansion, it is robust, reliable, and inexpensive, and can be used to screen large series of patients. It proved useful for confirming the presence of large expansions in the Friedreich ataxia gene following an ambiguous result of long-range PCR, as well as rapid pre-screening for large repeat expansions associated with Friedreich ataxia and SCA10 and the shorter repeat expansions associated with SCA12.

Original languageEnglish (US)
Pages (from-to)96-100
Number of pages5
JournalJournal of Molecular Diagnostics
Volume6
Issue number2
DOIs
StatePublished - May 2004

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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