Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.

doi:10.1046/j.1469-1809.1999.6310001.x

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

Back to search

Article

Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.

Annals of human genetics - 1 Jan 1999

Valente E M, Povey S, Warner T T, Wood N W, Davis M B

Abstract excerpt

The DYT1 gene on human chromosome 9q34 appears to be responsible for most cases of early onset primary torsion dystonia (PTD) both in Ashkenazi Jewish (AJ) and in non-Jewish patients. Previous haplotype analysis in a 2 cM region surrounding the DYT1 gene showed that a single founder mutation (DYT1AJ) was responsible for most cases of early onset PTD in the North American AJ population and refined the most likely...

Topics

Alleles
Carrier Proteins
Chromosomes, Human, Pair 9
Dystonia Musculorum Deformans
Female
Founder Effect
Genotype
Haplotypes
Humans
Jews
Linkage Disequilibrium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microsatellite Repeats

Molecular Chaperones

Phenotype

Sequence Deletion

United Kingdom

Source

Open in PubMed

Identifiers

PMID: 10738516
DOI: 10.1046/j.1469-1809.1999.6310001.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 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.

discussions

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

Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.PMID 10738516Read ↗

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.Semantic proximity Read ↗

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.Semantic proximity Read ↗

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.Semantic proximity Read ↗

The DYT1 phenotype and guidelines for diagnostic testing.Semantic proximity Read ↗

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.Semantic proximity Read ↗

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.Semantic proximity Read ↗

DYT1 mutation in French families with idiopathic torsion dystonia.Semantic proximity Read ↗

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.Semantic proximity Read ↗

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?Semantic proximity Read ↗

Secondary dystonia and the DYTI gene.Semantic proximity Read ↗

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.Semantic proximity Read ↗

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34Semantic proximity Read ↗

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