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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...

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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