| 학회 |
한국화학공학회 |
| 학술대회 |
2007년 봄 (04/19 ~ 04/20, 울산 롯데호텔) |
| 권호 |
13권 1호, p.455 |
| 발표분야 |
생물화공 |
| 제목 |
Rapid Diagnosis of Most Common βigh3 Gene Associated Corneal Dystrophies by DNA Chip |
| 초록 |
The aim of this study is to develop a rapid diagnostic DNA chip to detect mutations of most common βigh3 mutations which cause corneal dystrophies (CDs). Recent studies have shown that LASIK can worsen the CDs, and thus initial screening of βigh3 gene mutation is urgently needed before LASIK. Suitable primer and probe sets were designed to examine the exon 4 of the βigh3 gene in order to identify mutant and wild type alleles. DNA chip diagnosing these CDs was successfully developed. Mutations were then identified by signals of the probes immobilized on DNA chip developed in this study. Ninety eight participants volunteered for this test. Each DNA sample from peripheral blood was analyzed by DNA sequencing and DNA chip, and then compared with each result. We concluded that this rapid genotyping using DNA chip allowed successful detection of CDs with 100% sensitivity. We thus conclude that mutational analysis of exon 4 of the βigh3 gene can be successfully performed with DNA chip technology providing enough information for the diagnosis of CDs. [This work was supported by Medigenes Co., Ltd. and by the Brain Korea 21 Project. Further support through the LG Chemicals Chair Professorship is appreciated.] |
| 저자 |
최 솔, 유소영, 김태임, 이상엽, 김응경, 금기창, 유내춘, 우원민
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| 소속 |
한국과학기술원 생명화학공학과 |
| 키워드 |
βigh3; TGFBI; DNA chip
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| E-Mail |
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| 원문파일 |
초록 보기 |
