Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Purpose: To analyze mutations of the arrestin/S-antigen (SAG) gene in nine newly identified Oguchi disease patients, and to examine whether the 926delA (formerly called 1147delA) mutation in the SAG gene is inherited from a single founder. Methods: DNA samples were assayed for mutations around nucleotide 926 of the SAG gene by direct sequencing, and analyzed for polymorphisms at codon 403 and IVS6-18 of the SAG gene by restriction analysis of polymerase chain reaction products. Results: All nine newly identified patients were homozygous for the 926delA mutation and had the same haplotype at codon 403 and IVS6-18. These findings are identical to those of previous reports of four Japanese Oguchi disease patients. Conclusions: Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese. This mutation appears to have been inherited from a single founder.

Original languageEnglish
Pages (from-to)350-352
Number of pages3
JournalJapanese Journal of Ophthalmology
Volume48
Issue number4
DOIs
Publication statusPublished - 2004

Keywords

  • Arrestin
  • Oguchi disease
  • S-antigen
  • Single founder

ASJC Scopus subject areas

  • Ophthalmology

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