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Article

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

Journal of medical genetics - 1 Dec 1993

MacDonald M E, Barnes G, Srinidhi J, Duyao M P, Ambrose C M, Myers R H, Gray J, Conneally P M, Young A, Penney J

Abstract excerpt

Instability of a CAG repeat in 4p16.3 has been found in Huntington's disease (HD) chromosomes. Unlike a similar repeat in the fragile X syndrome, the expanded HD repeat showed no evidence of somatic instability in a comparison of blood, lymphoblast, and brain DNA from the same persons. Four pairs of monozygotic HD twins displayed identical CAG repeat lengths suggesting that repeat size is determined in...

Topics

Adolescent
Adult
DNA
Diseases in Twins
Female
Genetic Variation
Gestational Age
Humans
Huntington Disease
Male
Mosaicism
Oligodeoxyribonucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Spermatozoa

Tissue Distribution

Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 8133508
DOI: 10.1136/jmg.30.12.982
PMCID: PMC1016628

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8133508-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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