DC Field | Value | Language |
---|---|---|
dc.contributor.author | Yoo, SY | ko |
dc.contributor.author | Kim, TI | ko |
dc.contributor.author | Lee, SangYup | ko |
dc.contributor.author | Kim, EK | ko |
dc.contributor.author | Keum, KC | ko |
dc.contributor.author | Yoo, NC | ko |
dc.contributor.author | Yoo, WM | ko |
dc.date.accessioned | 2013-03-07T16:49:00Z | - |
dc.date.available | 2013-03-07T16:49:00Z | - |
dc.date.created | 2012-02-06 | - |
dc.date.created | 2012-02-06 | - |
dc.date.created | 2012-02-06 | - |
dc.date.issued | 2007-06 | - |
dc.identifier.citation | BRITISH JOURNAL OF OPHTHALMOLOGY, v.91, pp.722 - 727 | - |
dc.identifier.issn | 0007-1161 | - |
dc.identifier.uri | http://hdl.handle.net/10203/90721 | - |
dc.description.abstract | Aim: To develop a diagnostic DNA chip to detect mutations in the beta igh3 gene causing the most common corneal dystrophies (CDs). Methods: Samples from 98 people, including patients with beta igh3-associated CDs (beta-aCDs), were examined. Specific primer and probe sets were designed to examine exons 4 and 12 of the beta igh3 gene, in order to identify mutant and wildtype alleles. Mutations were then identified by hybridisation signals of sequence-specific probes immobilised on the slide glass. Results: Direct sequencing of exons 4 and 12 of the bigh3 gene in the patients' genome showed that beta-aCDs could be mainly classified into five types: homozygotic Avellino corneal dystrophy (ACD), heterozygotic ACD, heterozygotic lattice CD I, heterozygotic Reis-Bucklers CD and heterozygotic granular CD. Blind tests were performed by applying the target DNA amplified from the genomic DNA isolated from the peripheral blood of the participants onto a DNA chip. The results obtained by DNA chip hybridisation matched well with the direct DNA sequencing results. Conclusions: The DNA chip developed in this study allowed successful detection of beta-aCDs with a sensitivity of 100%. Mutational analysis of exons 4 and 12 of the beta igh3 gene, which are the mutational hot spots causing beta-aCDs, can be successfully performed with the DNA chip. Thus, this DNA chip-based method should allow a convenient, yet highly accurate, diagnosis of beta-aCDs, and can be further applied to diagnose other types of CDs. | - |
dc.language | English | - |
dc.publisher | B M J PUBLISHING GROUP | - |
dc.title | Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene | - |
dc.type | Article | - |
dc.identifier.wosid | 000246566500007 | - |
dc.identifier.scopusid | 2-s2.0-34249788149 | - |
dc.type.rims | ART | - |
dc.citation.volume | 91 | - |
dc.citation.beginningpage | 722 | - |
dc.citation.endingpage | 727 | - |
dc.citation.publicationname | BRITISH JOURNAL OF OPHTHALMOLOGY | - |
dc.identifier.doi | 10.1136/bjo.2006.111070 | - |
dc.contributor.localauthor | Lee, SangYup | - |
dc.contributor.nonIdAuthor | Yoo, SY | - |
dc.contributor.nonIdAuthor | Kim, TI | - |
dc.contributor.nonIdAuthor | Kim, EK | - |
dc.contributor.nonIdAuthor | Keum, KC | - |
dc.contributor.nonIdAuthor | Yoo, NC | - |
dc.contributor.nonIdAuthor | Yoo, WM | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | BIGH3 GENE | - |
dc.subject.keywordPlus | LATTICE | - |
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