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 Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Saga M,Mashima Y,Kudoh J,Oguchi Y,Shimizu Ndoi
10.1007/s10384-004-0070-2keywords:
subject
Has Abstractpub_date
2004-07-01 00:00:00pages
350-2issue
4eissn
0021-5155issn
1613-2246journal_volume
48pub_type
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章,多中心研究
doi:
更新日期:1993-01-01 00:00:00
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