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 language | English |
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Pages (from-to) | 350-352 |
Number of pages | 3 |
Journal | Japanese Journal of Ophthalmology |
Volume | 48 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2004 |
Keywords
- Arrestin
- Oguchi disease
- S-antigen
- Single founder
ASJC Scopus subject areas
- Ophthalmology