Original ArticlesA new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
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2017, Handbook of Clinical NeurologyCitation Excerpt :Presence of an expanded CAG repeat became the accepted molecular standard for confirmation of HD in those presenting with suggestive signs of the disease. The development of a rapid, inexpensive, and precise test for the HD mutation, based on polymerase chain reaction (PCR) amplification of the CAG repeat region and analysis of its size, enabled unambiguous genetic diagnosis of patients (Warner et al., 1993; Andrew et al., 1994b). In addition, the genetic test allowed for definitive presymptomatic testing of individuals, previously possible only with linked chromosomal markers, revealing the exact HD genotype years or even decades before clinical diagnosis.
American college of medical genetics and genomics standards and guidelines for clinical genetics laboratories, 2014 edition: Technical standards and guidelines for huntington disease
2014, Genetics in MedicineCitation Excerpt :PCR methods. Several sets of primers, polymerase chain reaction (PCR) conditions, and amplicon separation and detection techniques have been published.18,19,20,21,22 Regardless of the particular PCR-based strategy selected, it is important for assay conditions and post-PCR analyses to be optimized to ensure the accurate and unambiguous quantitation of repeat length (Figure 2a,b).