[Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa].
The author analyzed codon 347 of the rhodopsin gene using PCR (polymerase chain reaction) amplification and restriction enzymes in 19 unrelated Japanese families including 28 patients with autosomal dominant retinitis pigmentosa (ADRP). An allele of codon 347 mutation was found in a family (father and daughter). Sequence analysis shows that the mutation is from CCG to CTG. This mutation appears to be the cause of one form of ADRP, since it was also found in Japanese cases of ADRP which have a different racial background from families reported by Dryja et al.
Hotta
Y
Y
Department of Ophthalmology, Juntendo University School of Medicine, Bunkyo-ku, Japan.
Shiono
T
T
Hayakawa
M
M
Hashimoto
T
T
Kanai
A
A
Nakajima
A
A
Noro
M
M
Sakuma
T
T
Tamai
M
M
Fujiki
K
K
D003062:Codon; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D006801:Humans; D007564:Japan; D009154:Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D003062:Codon; D012243:Rhodopsin