Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing |
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Authors: | Yu S Fimmel A Fung D Trent R J |
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Affiliation: | Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown NSW, Australia. |
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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. |
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Keywords: | (CAG)n repeat Huntington disease PCR silent mutations |
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