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 journalArticle

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
Pages (from-to)96-100
Number of pages5
JournalJournal of Molecular Diagnostics
Volume6
Issue number2
Publication statusPublished - May 2004

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Friedreich Ataxia
Polymerase Chain Reaction
Inborn Genetic Diseases
Medical Genetics
Microsatellite Repeats
Genes

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Cagnoli, C., Michielotto, C., Matsuura, T., Ashizawa, T., Margolis, R. L., Holmes, S. E., ... Brusco, A. (2004). Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. Journal of Molecular Diagnostics, 6(2), 96-100.

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. / Cagnoli, Claudia; Michielotto, Chiara; Matsuura, Tohru; Ashizawa, Tetsuo; Margolis, Russell L.; Holmes, Susan E.; Gellera, Cinzia; Migone, Nicola; Brusco, Alfredo.

In: Journal of Molecular Diagnostics, Vol. 6, No. 2, 05.2004, p. 96-100.

Research output: Contribution to journalArticle

Cagnoli, C, Michielotto, C, Matsuura, T, Ashizawa, T, Margolis, RL, Holmes, SE, Gellera, C, Migone, N & Brusco, A 2004, 'Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay', Journal of Molecular Diagnostics, vol. 6, no. 2, pp. 96-100.
Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. Journal of Molecular Diagnostics. 2004 May;6(2):96-100.
Cagnoli, Claudia ; Michielotto, Chiara ; Matsuura, Tohru ; Ashizawa, Tetsuo ; Margolis, Russell L. ; Holmes, Susan E. ; Gellera, Cinzia ; Migone, Nicola ; Brusco, Alfredo. / Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. In: Journal of Molecular Diagnostics. 2004 ; Vol. 6, No. 2. pp. 96-100.
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