[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis].
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.
Martínez Gimeno
M
M
Servicio de Laboratorio Hospital de Terrassa. Terrassa. Barcelona.
Trujillo
M J
MJ
García Sandoval
B
B
del Río
T
T
Maseras
M
M
Ayuso
C
C
Carballo
M
M
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*
D012243:Rhodopsin