Please use this identifier to cite or link to this item: https://doi.org/10.1080/14737159.2016.1241145
Title: Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis
Authors: Lian, Mulias 
Law, Hai-Yang 
Lee, Caroline G 
Chong, Samuel S 
Keywords: Science & Technology
Life Sciences & Biomedicine
Pathology
Myotonic dystrophy type 1
DMPK
TP-PCR
MCA
screening
CTG REPEAT
SEQUENCE INTERRUPTIONS
GENE
DIAGNOSIS
GUIDELINES
EXPANSION
Issue Date: 1-Nov-2016
Publisher: TAYLOR & FRANCIS LTD
Citation: Lian, Mulias, Law, Hai-Yang, Lee, Caroline G, Chong, Samuel S (2016-11-01). Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS 16 (11) : 1221-1232. ScholarBank@NUS Repository. https://doi.org/10.1080/14737159.2016.1241145
Abstract: Background:DMPK CTG-repeat expansions that cause myotonic dystrophy type 1 (DM1) can be detected more rapidly, cost-effectively, and simply by combining triplet-primed PCR (TP-PCR) with melting curve analysis (MCA). We undertook a detailed technical validation study to define the optimal operational parameters for performing bidirectional TP-PCR MCA assays. Methods: We determined the assays’ analytic specificity and sensitivity, assessed the effect of reaction volumes, DNA diluents, and common contaminants on melt peak temperature, determined the assays’ sensitivity in detecting low-level mosaicism for repeat expansion, and evaluated their performance on two real-time PCR platforms. Results: Both assays were highly specific and sensitive, and performed optimally under a broad range of parameters. Bidirectional TP-PCR MCA analysis also reduces the risk of generating false-negative results associated with the rare CCG-interruptions that may be present at either end of expanded alleles. Conclusion: The DMPK TP-PCR MCA is a highly specific, sensitive, and significantly cost-saving screening tool for DM1.
Source Title: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
URI: https://scholarbank.nus.edu.sg/handle/10635/226884
ISSN: 1473-7159
1744-8352
DOI: 10.1080/14737159.2016.1241145
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