Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.

doi:10.1093/hmg/4.2.203

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Article

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.

Human molecular genetics - 1 Feb 1995

Rubinsztein D C, Leggo J, Goodburn S, Barton D E, Ferguson-Smith M A

Abstract excerpt

The discovery of the intragenic delta 2642 deletion/insertion polymorphism in the Huntington's disease (HD) gene provides a tool to explore HD evolution, as the deletion is rare in normal chromosomes but overrepresented in HD chromosomes. Thus, delta 2642 deletion alleles were thought to mark nor...

Topics

Alleles
Animals
Asian People
Black People
Chromosomes
England
Haplotypes
Heterozygote
Humans
Huntington Disease
India
Japan
Nigeria
Pan troglodytes
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Primates
Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 7757068
DOI: 10.1093/hmg/4.2.203

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7757068-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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