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American Society for Investigative Pathology (ASIP), The Journal of Molecular Diagnostics, 2(6), p. 96-100

DOI: 10.1016/s1525-1578(10)60496-5

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Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay

Journal article published in 2004 by Claudia Cagnoli, Margolis Rl, Holmes Se, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L. Margolis, Susan E. Holmes, Cinzia Gellera ORCID, Nicola Migone, Alfredo Brusco ORCID
This paper is available in a repository.
This paper is available in a repository.

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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.