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 language | English |
|---|---|
| Pages (from-to) | 128-132 |
| Number of pages | 5 |
| Journal | Journal of Molecular Diagnostics |
| Volume | 8 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 2006 |
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ASJC Scopus subject areas
- Molecular Biology
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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 journal › Article
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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 -