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Fluorescence PCR and GeneScan analysis for the detection of CAG repeat expansions associated with Huntington's

Cindy L Vnencak-Jones1

  • 1Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA.

Methods in Molecular Biology (Clifton, N.J.)
|December 21, 2002
PubMed
Abstract

No abstract available in PubMed .

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...