Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

Claudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Alessandro Brussino, Patrizia Pappi, Alexandra Durr, Elisa Dragone, Michelle Viemont, Cinzia Gellera, Alexis Brice, Nicola Migone, Alfredo Brusco

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)128-132
Number of pages5
JournalJournal of Molecular Diagnostics
Volume8
Issue number1
DOIs
Publication statusPublished - Feb 2006

Fingerprint

Polymerase Chain Reaction
Parents
Genes
Cerebellar Ataxia
Prenatal Diagnosis
Microsatellite Repeats
Fetus

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. / Cagnoli, Claudia; Stevanin, Giovanni; Michielotto, Chiara; Promis, Giovanni Gerbino; Brussino, Alessandro; Pappi, Patrizia; Durr, Alexandra; Dragone, Elisa; Viemont, Michelle; Gellera, Cinzia; Brice, Alexis; Migone, Nicola; Brusco, Alfredo.

In: Journal of Molecular Diagnostics, Vol. 8, No. 1, 02.2006, p. 128-132.

Research output: Contribution to journalArticle

Cagnoli, C, Stevanin, G, Michielotto, C, Promis, GG, Brussino, A, Pappi, P, Durr, A, Dragone, E, Viemont, M, Gellera, C, Brice, A, Migone, N & Brusco, A 2006, 'Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay', Journal of Molecular Diagnostics, vol. 8, no. 1, pp. 128-132. https://doi.org/10.2353/jmoldx.2006.050043
Cagnoli, Claudia ; Stevanin, Giovanni ; Michielotto, Chiara ; Promis, Giovanni Gerbino ; Brussino, Alessandro ; Pappi, Patrizia ; Durr, Alexandra ; Dragone, Elisa ; Viemont, Michelle ; Gellera, Cinzia ; Brice, Alexis ; Migone, Nicola ; Brusco, Alfredo. / Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. In: Journal of Molecular Diagnostics. 2006 ; Vol. 8, No. 1. pp. 128-132.
@article{c80da8e7f3534c4fbd20c9b34e5f5575,
title = "Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay",
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.",
author = "Claudia Cagnoli and Giovanni Stevanin and Chiara Michielotto and Promis, {Giovanni Gerbino} and Alessandro Brussino and Patrizia Pappi and Alexandra Durr and Elisa Dragone and Michelle Viemont and Cinzia Gellera and Alexis Brice and Nicola Migone and Alfredo Brusco",
year = "2006",
month = "2",
doi = "10.2353/jmoldx.2006.050043",
language = "English",
volume = "8",
pages = "128--132",
journal = "Journal of Molecular Diagnostics",
issn = "1525-1578",
publisher = "Association of Molecular Pathology",
number = "1",

}

TY - JOUR

T1 - Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

AU - Cagnoli, Claudia

AU - Stevanin, Giovanni

AU - Michielotto, Chiara

AU - Promis, Giovanni Gerbino

AU - Brussino, Alessandro

AU - Pappi, Patrizia

AU - Durr, Alexandra

AU - Dragone, Elisa

AU - Viemont, Michelle

AU - Gellera, Cinzia

AU - Brice, Alexis

AU - Migone, Nicola

AU - Brusco, Alfredo

PY - 2006/2

Y1 - 2006/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=32944454491&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=32944454491&partnerID=8YFLogxK

U2 - 10.2353/jmoldx.2006.050043

DO - 10.2353/jmoldx.2006.050043

M3 - Article

C2 - 16436644

AN - SCOPUS:32944454491

VL - 8

SP - 128

EP - 132

JO - Journal of Molecular Diagnostics

JF - Journal of Molecular Diagnostics

SN - 1525-1578

IS - 1

ER -