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Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing
Authors:Yu S  Fimmel A  Fung D  Trent R J
Affiliation:Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown NSW, Australia.
Abstract:
Five of 400 patients (1.3%), referred for Huntington disease DNA testing, demonstrated a single allele on CAG alone, but two alleles when the CAG + CCG repeats were measured. The PCR assay failed to detect one allele in the CAG alone assay because of single-base silent polymorphisms in the penultimate or the last CAG repeat. The region around and within the CAG repeat sequence in the Huntington disease gene is a hot-spot for DNA polymorphisms, which can occur in up to 1% of subjects tested for Huntington disease. These polymorphisms may interfere with amplification by PCR, and so have the potential to produce a diagnostic error.
Keywords:(CAG)n repeat    Huntington disease    PCR    silent mutations
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