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JMD 2006, Vol. 8, No. 1
Copyright © 2006 American Society for Investigative Pathology & Association for Molecular Pathology

Consultations in Molecular Diagnostics

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

Claudia Cagnoli*, Giovanni Stevanin{dagger}{ddagger}, Chiara Michielotto§, Giovanni Gerbino Promis§, Alessandro Brussino*, Patrizia Pappi§, Alexandra Durr{dagger}{ddagger}, Elisa Dragone§, Michelle Viemont{ddagger}, Cinzia Gellera, Alexis Brice{dagger}{ddagger}, Nicola Migone*,§ and Alfredo Brusco*,§

From the Dipartimento di Genetica Biologia e Biochimica, * Università degli Studi di Torino, Torino, Italy; INSERM U679 (former U289), {dagger} Salpetriere Hospital, Paris, France; the Department of Genetics Cytogenetics and Embryology, {ddagger} APHP Salpetriere Hospital, Paris, France; the Azienda Ospedaliera San Giovanni Battista di Torino, SCDU Genetica Medica, § Torino, Italy; and the Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico "C. Besta", Milano, Italy

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.






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Copyright © 2006 by the American Society for Investigative Pathology and the Association for Molecular Pathology.