Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
The Journal of Molecular Diagnostics. 2006-02-01; 8(1): 128-132
DOI: 10.2353/jmoldx.2006.050043
Lire sur PubMed
1. J Mol Diagn. 2006 Feb;8(1):128-32.
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by
fluorescent repeat-primed polymerase chain reaction assay.
Cagnoli C(1), Stevanin G, Michielotto C, Gerbino Promis G, Brussino A, Pappi P,
Durr A, Dragone E, Viemont M, Gellera C, Brice A, Migone N, Brusco A.
Author information:
(1)Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di
Torino, via Santena 19, 10126, Torino, Italy.
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.
DOI: 10.2353/jmoldx.2006.050043
PMCID: PMC1867568
PMID: 16436644 [Indexed for MEDLINE]