Please use this identifier to cite or link to this item: https://doi.org/10.1159/000444714
Title: Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay
Authors: Zhao, Mingjue 
Lee, Caroline G 
Law, Hai-Yang 
Chong, Samuel S 
Keywords: Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences
Neurosciences & Neurology
HTT gene
Huntington disease
Triplet-primed PCR
Capillary electrophoresis
Issue Date: 1-Jan-2016
Publisher: KARGER
Citation: Zhao, Mingjue, Lee, Caroline G, Law, Hai-Yang, Chong, Samuel S (2016-01-01). Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay. NEURODEGENERATIVE DISEASES 16 (5-Jun) : 348-351. ScholarBank@NUS Repository. https://doi.org/10.1159/000444714
Abstract: Background: Accurate determination of the CAG repeat number is crucial for diagnostic and predictive testing for Huntington disease (HD). Current PCR-based assays can accurately size up to ∼110 HTT CAG repeats. Objective: To develop an improved assay capable of detecting larger CAG repeat expansions. Methods: A triplet-primed PCR (TP-PCR) assay was optimized and validated on 14 HD reference DNAs, including a sample carrying a large expansion of ∼180 CAG repeats. Results: All 14 HD reference samples showed 100% concordance with the previously verified allele sizes. For alleles under 45 CAGs, identical repeat sizes were obtained, while alleles larger than 46 CAGs were sized to within ±1 CAG. The improved TP-PCR assay successfully detected the ∼180 CAG repeat allele in an affected sample. Conclusion: This method extends the detection limit of large expanded alleles to at least ∼175-180 CAG repeats, thus reducing the likelihood of requiring Southern blot analysis for any HD-affected sample.
Source Title: NEURODEGENERATIVE DISEASES
URI: https://scholarbank.nus.edu.sg/handle/10635/226920
ISSN: 1660-2854
1660-2862
DOI: 10.1159/000444714
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