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Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

Genetic testing - 1 Jan 2000

Williams L C, Hegde M R, Nagappan R, Faull R L, Giles J, Winship I, Snow K, Love D R

Abstract excerpt

PCR amplification of the CAG repeat in exon 1 of the IT15 gene is routinely undertaken to confirm a clinical diagnosis of Huntington disease (HD) and to provide predictive testing for at-risk relatives of affected individuals. Our studies have detected null alleles on the chromosome carrying the expanded repeat in three of 91 apparently unrelated HD families. Sequence analysis of these alleles has revealed the...

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Identifiers

PMID: 10794362
DOI: 10.1089/109065700316480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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