RGD Reference Report - Analysis of peripherin/RDS gene for Japanese retinal dystrophies. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Analysis of peripherin/RDS gene for Japanese retinal dystrophies.

Authors: Fujiki, K  Hotta, Y  Hayakawa, M  Fujimaki, T  Takeda, M  Isashiki, Y  Ohba, N  Kanai, A 
Citation: Fujiki K, etal., Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92.
RGD ID: 8553224
Pubmed: PMID:9690896   (View Abstract at PubMed)

We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 with cone-rod dystrophy, 5 with rod-cone dystrophy, 3 with vitelliform macular dystrophy (Best's disease), 4 with macular dystrophy, 2 with cone dystrophy, 2 with fundus flavimaculatus, 2 with fundus albipunctatus, and 12 with retinitis pigmentosa with macular degeneration as well as 40 unrelated normal persons. Three exons of the peripherin/RDS gene cut into 150-200 base-pair fragments were amplified by polymerase chain reaction and screened by single-strand conformation polymorphism. The DNA fragments with any suspected variations were directly sequenced. Eight point mutations were detected. Among them, two missense mutations at codons 304 and 338 result in an amino acid substitution of glutamine for glutamic acid and aspartic acid for glycine, respectively. However, they were not cosegregated with the diseases, and these mutations were also commonly found in normal controls. For these controls, the proportion of transversion from G to C at codon 304 (GAG-->CAG) and transition from G to A at codon 338 (GGC-->GAC) were 0.192 +/- 0.045 and 0.173 +/- 0.053, respectively. Our results suggest that a peripherin/RDS gene mutation might be rare in Japanese patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
fundus dystrophy no_associationIAGP 8553224DNA:polymorphism:exon:p.E304Q and G338D(human)RGD 
fundus dystrophy no_associationISOPRPH2 (Homo sapiens)8553224; 8553224DNA:polymorphism:exon:p.E304Q and G338D(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Prph2  (peripherin 2)

Genes (Mus musculus)
Prph2  (peripherin 2)

Genes (Homo sapiens)
PRPH2  (peripherin 2)


Additional Information