Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

doi:10.1159/000154307

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

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

Human heredity - 1 Jan 2000

Reynolds J E, Arnos K S, Landa B, Stevens C A, Salbert B A, Wright L, Duke B, Hunt W, Marazita M L, Ploughman L

Abstract excerpt

We performed linkage and locus heterogeneity analyses of Waardenburg syndrome (WS) types 1 and 2 using 9 DNA markers from 2q35-q37, including two highly polymorphic microsatellites very closely linked to the PAX3 candidate gene. None of 5 WS type 2 (WS2) families showed linkage to the PAX3 candidate region. We localized the marker D2S102 to less than 1 cM from PAX3 (lod = 33.7, theta = 0), but a complete absence...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 2
Crossing Over, Genetic
DNA Primers
DNA, Satellite
DNA-Binding Proteins
Family
Female
Genetic Linkage
Genetic Markers
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Karyotyping

Lod Score

Male

PAX3 Transcription Factor

Paired Box Transcription Factors

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 7590754
DOI: 10.1159/000154307

Genes

PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7590754-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 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

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.PMID 7590754Read ↗

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Semantic proximity Read ↗

Analysis of variability of clinical manifestations in Waardenburg syndrome.Semantic proximity Read ↗

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.Semantic proximity Read ↗

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.Semantic proximity Read ↗

Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.Semantic proximity Read ↗

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.Semantic proximity Read ↗

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Semantic proximity Read ↗

Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.Semantic proximity Read ↗

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation SequencingSemantic proximity Read ↗

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?Semantic proximity Read ↗

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.Semantic proximity Read ↗

Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.Semantic proximity Read ↗

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