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 Kudo, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

22 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 languageEnglish
Pages (from-to)61-67
Number of pages7
JournalOphthalmic Genetics
Volume15
Issue number2
DOIs
Publication statusPublished - 1994

Fingerprint

Retinitis Pigmentosa
Rhodopsin
Codon
Single-Stranded Conformational Polymorphism
Polymerase Chain Reaction
Mutation
Vertebrate Photoreceptor Cells
DNA Restriction Enzymes
Blindness
Genes
Digestion
Nucleotides

Keywords

  • Autosomal dominant retinitis pigmentosa
  • Japanese
  • Mutation
  • Rhodopsin

ASJC Scopus subject areas

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

Cite this

Autosomal dominant retinitis pigmentosa : A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family. / Saga, Masamichi; Mashima, Yukihiko; Akeo, Kiyoshi; Oguchi, Yoshihisa; Kudo, Jun; Shimizu, Nobuyoshi.

In: Ophthalmic Genetics, Vol. 15, No. 2, 1994, p. 61-67.

Research output: Contribution to journalArticle

Saga, Masamichi ; Mashima, Yukihiko ; Akeo, Kiyoshi ; Oguchi, Yoshihisa ; Kudo, Jun ; Shimizu, Nobuyoshi. / Autosomal dominant retinitis pigmentosa : A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family. In: Ophthalmic Genetics. 1994 ; Vol. 15, No. 2. pp. 61-67.
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