title: [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].
abstract: Mutations in the rhodopsin gene have been sought in a family with autosomal dominant retinitis pigmentosa. Screening for mutations in the rhodopsin gene was carried out by polimerase chain reaction and denaturant gradient gel electrophoresis. Direct DNA sequencing was performed for the characterization of punctual mutations. A base substitution in the exon 2 of the rhodopsin gene was detected. Direct DNA sequencing revealed a CGC to CTG change in codon 135, that substitutes arginine for leucine residue in rhodopsin. The mutation segregates with the disease phenotype in the family. The mutation Arg-135-Leu causes the retinitis pigmentosa phenotype in the family, where the disease is inherited following an autosomal dominant pattern.
authors.affiliation: Secció de Genètica, Hospital Sant Joan de Déu, Barcelona.
authors.forename: C
authors.initials: C
authors.lastname: Reig
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: E
authors.initials: E
authors.lastname: Gean
authors.forename: C
authors.initials: C
authors.lastname: Dante Heredia
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: M
authors.initials: M
authors.lastname: Carballo
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D003062:Codon; D012243:Rhodopsin; D001120:Arginine; D007930:Leucine
vernacular_title: Identificación de la mutación Arg-135-Leu en el gen de la rodopsina en una familia con retinosis pigmentaria autosómica dominante.