Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
Jpn J Ophthalmol
; 48(4): 350-2, 2004.
Article
in En
| MEDLINE
| ID: mdl-15295660
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Night Blindness
/
Point Mutation
/
Founder Effect
/
Arrestin
Type of study:
Prognostic_studies
Limits:
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Jpn J Ophthalmol
Year:
2004
Document type:
Article
Affiliation country:
Japan