Document Detail

Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan.
MedLine Citation:
PMID:  12851728     Owner:  NLM     Status:  MEDLINE    
Glaucoma is a major cause of blindness characterized by progressive degeneration of the optic nerve and elevated intraocular pressure. Recent studies have revealed a genetic basis for a substantial proportion of cases of familial primary open-angle glaucoma (POAG) and the gene causing the abnormality has been identified. Sequence variations that meet the criteria for a probable disease-causing mutation have been found in the American and European populations. In this study, we examined 58 cases of sporadic glaucoma from Japan to clarify the relationship between the mutations of the GLC1A gene and sporadic glaucoma in Japan. We have examined 33 POAG, 17 primary closed-angle glaucomas, 6 normal-tension glaucomas and 2 steroid-induced glaucomas for mutation of the GLC1A gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing studies. We identified a previously unreported GGT right curved arrow GAT transition at codon 451 in exon 3, resulting in a glycine to asparagine substitution in one POAG patient. No other mutations of the GLC1A gene were found in other types of glaucoma. These findings further emphasize the importance of GLC1A mutation in the development of POAG.
Takayuki Ikezoe; Seisho Takeuchit; Naoki Komatsu; Miyuki Okada; Atsuki Fukushima; Hisayuki Ueno; H Phillip Koeffler; Hirokuni Taguchi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of molecular medicine     Volume:  12     ISSN:  1107-3756     ISO Abbreviation:  Int. J. Mol. Med.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-09     Completed Date:  2003-10-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9810955     Medline TA:  Int J Mol Med     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  259-61     Citation Subset:  IM    
Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics
Cytoskeletal Proteins
Eye Proteins / genetics*
Glaucoma, Open-Angle / genetics*
Glycoproteins / genetics*
Point Mutation*
Polymerase Chain Reaction / methods
Polymorphism, Single-Stranded Conformational
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Eye Proteins; 0/Glycoproteins; 0/trabecular meshwork-induced glucocorticoid response protein

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