6533b82ffe1ef96bd1295c7b

RESEARCH PRODUCT

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa

C. NájeraJm MillánHeike WedemannAndreas GalNuria ParicioFélix PrietoSigrid Fuchs

subject

AdultMaleRhodopsincongenital hereditary and neonatal diseases and abnormalitiesAdolescentgenetic structuresMolecular Sequence DataGlycinemedicine.disease_causeAutosomal dominant retinitis pigmentosaRetinitis pigmentosaAspartic acidmedicineHumansPoint MutationAmino Acid SequenceCodonMolecular BiologyGenes DominantGeneticsAspartic AcidMutationPolymorphism GeneticBase SequencebiologyDirect sequencingSingle-strand conformation polymorphismCell BiologyMiddle Agedmedicine.diseasePedigreeRhodopsinGlycinebiology.proteinFemalesense organsRetinitis Pigmentosa

description

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.

yearjournalcountryeditionlanguage
1995-02-01Molecular and Cellular Probes
https://doi.org/10.1016/s0890-8508(95)91052-2