A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

doi:10.1136/jmg.35.1.1

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Article

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Journal of medical genetics - 1 Jan 1998

Inglehearn C F, Tarttelin E E, Plant C, Peacock R E, al-Maghtheh M, Vithana E, Bird A C, Bhattacharya S S

Abstract excerpt

Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by linkage analysis. Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively. No estimate of frequency has previously been possible for the remaining loci, since these can only be implicated when families are...

Topics

Chromosome Mapping
Female
Gene Frequency
Genes, Dominant
Genetic Heterogeneity
Genetic Linkage
Humans
Male
Mutation
Pedigree
Retinitis Pigmentosa
Rhodopsin

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Identifiers

PMID: 9475085
DOI: 10.1136/jmg.35.1.1
PMCID: PMC1051177

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