Discover Community Create You

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

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.

American journal of human genetics - 1 Jul 1994

Teague P W, Aldred M A, Jay M, Dempster M, Harrison C, Carothers A D, Hardwick L J, Evans H J, Strain L, Brock D J

Abstract excerpt

Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chi-Square Distribution
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Heterozygote

Share to Lod Score

Share to Phenotype

Share to Polymorphism, Genetic

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 8023838
PMCID: PMC1918208

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.PMID 8023838Read ↗

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.Semantic proximity Read ↗

Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.Semantic proximity Read ↗

Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function.Semantic proximity Read ↗

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.Semantic proximity Read ↗

Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance.Semantic proximity Read ↗

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

Refined localization of the gene causing X-linked juvenile retinoschisis.Semantic proximity Read ↗

Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation.Semantic proximity Read ↗

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

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.Semantic proximity Read ↗

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.Semantic proximity Read ↗

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