Single-Step Scalable-Throughput Molecular Screening for Huntington Disease

From: Clinical Chemistry | Date: June 1, 2008| Author: Teo, Clara R L; Wang, Wen; Law, Hai Yang; Lee, Caroline G; Chong, Samuel S | Copyright information

BACKGROUND: Huntington disease (HD) is a fatal autosomal dominant neurodegenerative disorder caused by an unstable expansion of the CAG trinucleotide repeat in exon 1 of the HTT (huntingtin) gene and typically has an adult onset. Molecular diagnosis and screening for HD currently involve separate amplification and detection steps.

METHODS: We evaluated a novel, rapid microplate-based screening method for HD that combines the amplification and detection procedures in a single-step, clos...

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