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

doi:10.1016/S1525-1578(10)60496-5

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

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 language	English (US)
Pages (from-to)	96-100
Number of pages	5
Journal	Journal of Molecular Diagnostics
Volume	6
Issue number	2
DOIs	https://doi.org/10.1016/S1525-1578(10)60496-5
State	Published - May 2004

ASJC Scopus subject areas

Pathology and Forensic Medicine
Molecular Medicine

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10.1016/S1525-1578(10)60496-5

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

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.",

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T1 - Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

AU - Cagnoli, Claudia

AU - Michielotto, Chiara

AU - Matsuura, Tohru

AU - Ashizawa, Tetsuo

AU - Margolis, Russell L.

AU - Holmes, Susan E.

AU - Gellera, Cinzia

AU - Migone, Nicola

AU - Brusco, Alfredo

PY - 2004/5

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AB - 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.

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

Abstract

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