Published in

American Society for Investigative Pathology (ASIP), The Journal of Molecular Diagnostics, 1(8), p. 128-132

DOI: 10.2353/jmoldx.2006.050043

Links

Tools

Export citation

Search in Google Scholar

Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

Journal article published in 2006 by Claudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Giovanni Gerbino Promis, Alessandro Brussino, Patrizia Pappi, Alexandra Durr, Elisa Dragone, Michelle Viemont, Cinzia Gellera ORCID, Alexis Brice, Nicola Migone, Alfredo Brusco ORCID
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

White circle
Preprint: policy unclear
Upload
White circle
Postprint: policy unclear
Upload
Question mark in circle
Published version: policy unknown
Upload
Policy details
Data provided by SHERPA/RoMEO

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.