Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

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Article

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

American journal of human genetics - 1 Mar 1992

Inglehearn C F, Lester D H, Bashir R, Atif U, Keen T J, Sertedaki A, Lindsey J, Jay M, Bird A C, Farrar G J

Abstract excerpt

Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for mutations which segregated with the disease in adRP patients, and several have now been identified. However, we report that, as yet, no rhodopsin mutation has been...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 3
DNA Probes
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Genetic

Recombination, Genetic

Retinitis Pigmentosa

Rhodopsin

Source

Open in PubMed Open full text

Identifiers

PMID: 1539595
PMCID: PMC1684283

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1539595-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.PMID 1539595Read ↗

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.Semantic proximity Read ↗

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families.Semantic proximity Read ↗

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