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JMD 2004, Vol. 6, No. 2
Copyright © 2004 American Society for Investigative Pathology & Association for Molecular Pathology

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{dagger}, Tetsuo Ashizawa{ddagger}, Russell L. Margolis§, Susan E. Holmes§, Cinzia Gellera, Nicola Migone* and Alfredo Brusco*

From the Dipartimento di Genetica Biologia e Biochimica, * Università degli Studi di Torino and Azienda Ospedaliera San Giovanni Battista di Torino, S.C. Genetica Medica, Torino, Italy; the Department of Molecular and Human Genetics, {dagger} Baylor College of Medicine, Houston, Texas; the Department of Neurology, {ddagger} The University of Texas Medical Branch, Galveston, Texas; the Department of Psychiatry, § Johns Hopkins University School of Medicine, Baltimore, Maryland; and the Divisione di Biochimica e Genetica, Istituto Neurologico "Carlo Besta", Milano, Italy

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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C. Cagnoli, G. Stevanin, C. Michielotto, G. Gerbino Promis, A. Brussino, P. Pappi, A. Durr, E. Dragone, M. Viemont, C. Gellera, et al.
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[Abstract] [Full Text] [PDF]


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Copyright © 2004 by the American Society for Investigative Pathology and the Association for Molecular Pathology.