title: [Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis].
abstract: Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.
authors.affiliation: Servicio de Laboratorio Hospital de Terrassa. Terrassa. Barcelona.
authors.forename: M
authors.initials: M
authors.lastname: Martínez Gimeno
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: B
authors.initials: B
authors.lastname: García Sandoval
authors.forename: T
authors.initials: T
authors.lastname: del Río
authors.forename: M
authors.initials: M
authors.lastname: Maseras
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Carballo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003582:Cytogenetics; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D012243:Rhodopsin