Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

Claudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Alessandro Brussino, Patrizia Pappi, Alexandra Durr, Elisa Dragone, Michelle Viemont, Cinzia Gellera, Alexis Brice, Nicola Migone, Alfredo Brusco

Research output: Contribution to journalArticle

Abstract

Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful application of the fluorescent short tandem repeat-primed PCR method for accurate identification of these expanded repeats. The test is robust, reliable, and inexpensive and can be used to screen large series of patients, although it cannot give a precise evaluation of the size of the expansion. This test may be of practical value in prenatal diagnoses offered to affected or pre-symptomatic at-risk parents, in which a very large expansion inherited from one of the parents can be missed in the fetus by standard PCR.

Original languageEnglish
Pages (from-to)128-132
Number of pages5
JournalJournal of Molecular Diagnostics
Volume8
Issue number1
DOIs
Publication statusPublished - Feb 2006

ASJC Scopus subject areas

  • Molecular Biology

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