Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.

doi:10.1136/jmg.30.12.987

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Article

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.

Journal of medical genetics - 1 Dec 1993

Goldberg Y P, Andrew S E, Theilmann J, Kremer B, Squitieri F, Telenius H, Brown J D, Hayden M R

Abstract excerpt

Huntington's disease (HD) is associated with expansion of a CAG repeat in a new gene. We have recently defined a premutation in a paternal allele of 30 to 38 CAG repeats in the HD gene which is greater than that seen in the general population (< 30 repeats) but below the range seen in patients with HD (> 38). These intermediate alleles are unstable during transmission through the germline and in sporadic cases...

Topics

Adult
Alleles
Base Sequence
DNA Primers
Female
Haplotypes
Humans
Huntington Disease
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligodeoxyribonucleotides

Pedigree

Phenotype

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 8133509
DOI: 10.1136/jmg.30.12.987
PMCID: PMC1016629

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8133509-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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