Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.
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.
Millán
J M
JM
Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.
Fuchs
S
S
Paricio
N
N
Wedemann
H
H
Gal
A
A
Nájera
C
C
Prieto
F
F
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*
D003062:Codon; D001224:Aspartic Acid; D012243:Rhodopsin; D005998:Glycine