Article
Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay.
Neuro-degenerative diseases - 1 Jan 2016
Zhao Mingjue, Lee Caroline G, Law Hai-Yang, Chong Samuel S
Abstract excerpt
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...
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