Journal
CLINICAL GENETICS
Volume 58, Issue 6, Pages 469-472Publisher
MUNKSGAARD INT PUBL LTD
DOI: 10.1034/j.1399-0004.2000.580607.x
Keywords
(CAG)(n) repeat; Huntington disease; PCR; silent mutations
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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.
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