IDENTIFICATION OF ARG-135-LEU MUTATION WI THIN THE RHODOPSIN GENE IN A SPANISH FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA

Mutations in the rhodopsin gene have been sought in a family with auto somal dominant retinitis pigmentosa. Screening for mutations in the rh odopsin gene was carried out by polimerase chain reaction and denatura nt gradient gel electrophoresis. Direct DNA sequencing was performed f or the characterization of punctual mutations. A base substitution in the exon 2 of the rhodopsin gene was detected. Direct DNA sequencing r evealed a CGC to CTG change in codon 135, that substitutes arginine fo r leucine residue in rhodopsin. The mutation segregates with the disea se phenotype in the family. The mutation Arg-135-Leu causes the retini tis pigmentosa phenotype in the family, where the disease is inherited following an autosomal dominant pattern.