Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Cell - 26 Mar 1993

Abstract excerpt

The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 4
Share to Cloning, Molecular
Share to Gene Expression

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Huntington Disease

Share to Oligodeoxyribonucleotides

Share to Repetitive Sequences, Nucleic Acid

Share to Restriction Mapping

Source

Identifiers

PMID: 8458085
DOI: 10.1016/0092-8674(93)90585-e

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.PMID 8458085Read ↗

A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion.Semantic proximity Read ↗

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.Semantic proximity Read ↗

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

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.Semantic proximity Read ↗

A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.Semantic proximity Read ↗

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.Semantic proximity Read ↗

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.Semantic proximity Read ↗

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.Semantic proximity Read ↗

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).Semantic proximity Read ↗

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.Semantic proximity Read ↗

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.Semantic proximity Read ↗

New 5'-(CGG)n-3' repeats in the human genome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.