Clinical Genetics · 2003 · 46 citations · 16 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsMolecular DiagnosticsGenetic DisordersHuntington DiseaseInherited Disease TestingNucleic Acid Amplification TestingPolymerase Chain ReactionScreening AssaysHuntington Disease Juvenile FormJuvenile Huntington DiseaseMolecular Diagnostic MarkersPolyglutamine DiseasesPolyglutamine Expansion DisordersPolymerase Chain Reaction-based Screening
Juvenile Huntington's disease (HD) becomes clinically manifest before 20 years of age. The diagnosis of HD is based on family history, characteristic clinical findings, and the detection of an expansion of a CAG polyglutamine tract in the Huntingtin gene. Juvenile HD is characterized by paternal anticipation and large CAG expansions that may be missed using routine molecular analysis. We have developed an easy, rapid, and reliable modified PCR method using XL (Extra Long) PCR that allowed us to diagnose one of the youngest children reported with juvenile HD. Without this innovation we would not have been able to demonstrate the large CAG expansion. This assay could become part of a standard protocol for HD testing in molecular diagnostic laboratories.
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