Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.
OBJECTIVE
To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa.


METHODS
We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a rhodopsin gene mutation (Gly106Arg) and in 100 normal individuals.


RESULTS
Among the patients with retinitis pigmentosa, 3 patients in one family had a heterozygous Gly106Arg mutation of the rhodopsin gene. They had night blindness and sectorial retinal dystrophy (predominantly at the inferior fundus) in both eyes. None of the 100 individuals with normal fundi had the Gly106Arg mutation of the rhodopsin gene.


CONCLUSIONS
The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.
Budu
Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Toyama, Japan.
Matsumoto
M
M
Hayasaka
S
S
Yamada
T
T
Hayasaka
Y
Y
D000328:Adult; D000368:Aged; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D014792:Visual Acuity; D014794:Visual Fields
D003062:Codon; D004247:DNA; D012243:Rhodopsin