title: Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.
abstract: 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.
authors.affiliation: Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: N
authors.initials: N
authors.lastname: Paricio
authors.forename: H
authors.initials: H
authors.lastname: Wedemann
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: C
authors.initials: C
authors.lastname: Nájera
authors.forename: F
authors.initials: F
authors.lastname: Prieto
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005998:Glycine; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D003062:Codon; D001224:Aspartic Acid; D012243:Rhodopsin; D005998:Glycine