Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers.

doi:10.1167/iovs.02-0895

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Article

Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers.

Investigative ophthalmology & visual science - 1 Mar 2003

Kondo Hiroyuki, Tahira Tomoko, Mizota Atsushi, Adachi-Usami Emiko, Oshima Kenji, Hayashi Kenshi

Abstract excerpt

PURPOSE: To describe a hierarchical approach for efficient genetic diagnosis of autosomal dominant retinitis pigmentosa (adRP). METHODS: Forty di-, tri-, or tetra-nucleotide repeats tightly linked to 10 genes known to be responsible for adRP were identified from the human genome sequence and used as markers in multiplex amplification and genotyping, followed by linkage analysis. Discordance of cosegregation of...

Topics

Carrier Proteins
Child, Preschool
DNA
DNA Mutational Analysis
Female
Frameshift Mutation
Genes, Dominant
Genetic Linkage
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microsatellite Repeats

Middle Aged

Pedigree

RNA-Binding Proteins

Retinitis Pigmentosa

Tandem Repeat Sequences

Source

Open in PubMed

Identifiers

PMID: 12601059
DOI: 10.1167/iovs.02-0895

Genes

PRPF8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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