Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

Masamichi Saga; Yukihiko Mashima; Kiyoshi Akeo; Yoshihisa Oguchi; Jun Kudoh; Nobuyoshi Shimizu

doi:10.3109/13816819409098865

Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

Masamichi Saga, Yukihiko Mashima, Kiyoshi Akeo, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu

Collaborative Research Resources (Laboratory of Gene Medicine)

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).

Original language	English
Pages (from-to)	61-67
Number of pages	7
Journal	Ophthalmic Genetics
Volume	15
Issue number	2
DOIs	https://doi.org/10.3109/13816819409098865
Publication status	Published - 1994

Keywords

Autosomal dominant retinitis pigmentosa
Japanese
Mutation
Rhodopsin

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

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title = "Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family",

abstract = "The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).",

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T2 - A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

AU - Saga, Masamichi

AU - Mashima, Yukihiko

AU - Akeo, Kiyoshi

AU - Oguchi, Yoshihisa

AU - Kudoh, Jun

AU - Shimizu, Nobuyoshi

PY - 1994

Y1 - 1994

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AB - The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).

KW - Autosomal dominant retinitis pigmentosa

KW - Japanese

KW - Mutation

KW - Rhodopsin

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Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

Abstract

Keywords

ASJC Scopus subject areas

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