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

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

Human molecular genetics - 1 Feb 1995

Telenius H, Almqvist E, Kremer B, Spence N, Squitieri F, Nichol K, Grandell U, Starr E, Benjamin C, Castaldo I

Abstract excerpt

We have analysed the CAG repeat in the Huntington disease (HD) gene in sperm and blood from 20 unrelated HD patients. Although the CAG repeat displayed significant mosaicism in sperm from all individuals, there were marked differences in the degree of repeat instability. Individuals who had eithe...

Topics

Adolescent
Adult
Aged
Alleles
Biomarkers
Chromosomes, Human
DNA
Densitometry
Humans
Huntington Disease
Male
Middle Aged
Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Spermatozoa

Source

Identifiers

PMID: 7757066
DOI: 10.1093/hmg/4.2.189

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7757066-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.PMID 7757066Read ↗

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers.Semantic proximity Read ↗

Gametic but not somatic instability of CAG repeat length in Huntington's disease.Semantic proximity Read ↗

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.Semantic proximity Read ↗

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.Semantic proximity Read ↗

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and spermSemantic proximity Read ↗

Patterns of meiotic variability of the (CAG)n repeat in the Huntington disease gene.Semantic proximity Read ↗

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.Semantic proximity Read ↗

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.Semantic proximity Read ↗

An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: interpretation of results and significance for risk assessment and genetic counseling.Semantic proximity Read ↗

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters.Semantic proximity Read ↗

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.Semantic proximity Read ↗

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene.Semantic proximity Read ↗

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