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

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.

journal_name

Jpn J Ophthalmol

authors

Saga M,Mashima Y,Kudoh J,Oguchi Y,Shimizu N

doi

10.1007/s10384-004-0070-2

keywords:

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

350-2

issue

4

eissn

0021-5155

issn

1613-2246

journal_volume

48

pub_type

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