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. © Japanese Ophthalmological Society 2004.
CITATION STYLE
Saga, M., Mashima, Y., Kudoh, J., Oguchi, Y., & Shimizu, N. (2004). Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. Japanese Journal of Ophthalmology, 48(4), 350–352. https://doi.org/10.1007/s10384-004-0070-2
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