Please use this identifier to cite or link to this item: https://doi.org/10.1093/clinchem/hvac011
Title: Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias
Authors: Lian, Mulias
Limwongse, Chanin
Yoon, Chui-Sheun
Lee, Caroline G 
Law, Hai-Yang 
Chong, Samuel S 
Keywords: Science & Technology
Life Sciences & Biomedicine
Medical Laboratory Technology
spinocerebellar ataxia
repeat expansion disorder
CAG repeat
triplet-primed-PCR
heptaplex
rapid screening
LARGE PATHOGENIC EXPANSIONS
CAG REPEAT
TRINUCLEOTIDE REPEAT
GENES
SCA12
PCR
Issue Date: 9-Mar-2022
Publisher: OXFORD UNIV PRESS INC
Citation: Lian, Mulias, Limwongse, Chanin, Yoon, Chui-Sheun, Lee, Caroline G, Law, Hai-Yang, Chong, Samuel S (2022-03-09). Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias. CLINICAL CHEMISTRY 68 (6). ScholarBank@NUS Repository. https://doi.org/10.1093/clinchem/hvac011
Abstract: BACKGROUND: The autosomal dominantly inherited and genetically heterogeneous spinocerebellar ataxias (SCAs) exhibit highly similar clinical presentations. Many are caused by repeat expansions, of which at least 8 involve CAG repeats. Repeat expansion detection is the only method to confirm disease status in symptomatic individuals. We present a novel strategy to simultaneously screen for the presence of CAG repeat expansion in the genes responsible for SCAs 1, 2, 3, 6, 7, 12, and dentatorubral-pallidoluysian atrophy using a simplified single-tube assay. METHODS: The method employs differentially labeled locus-specific primers and a common triplet-primed primer. Amplified products from each locus are distinguished by a combination of the product size and the fluorophore tag. The upper size limit of the normal allele range was used as the cutoff for distinguishing normal from potentially affected samples, with repeat expansion detected by presence of electrophoretic peaks extending beyond the cutoff. RESULTS: Blinded evaluation of the assay on 60 genotype-known DNA samples correctly detected repeat expansion in the expected SCA repeat locus for all 31 DNA samples. CONCLUSIONS: In principle, this strategy can be applied to the simultaneous screening of any group of disease genes sharing the same repetitive units and/or their reverse complement.
Source Title: CLINICAL CHEMISTRY
URI: https://scholarbank.nus.edu.sg/handle/10635/226742
ISSN: 00099147
15308561
DOI: 10.1093/clinchem/hvac011
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