Earticle

초록

영어

The aim of this study is to develop a rapid diagnostic DNA chip to detect 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. Direct sequencing of the exons 4 and 12 of the relevant gene showed that CDs could be mostly divided into homozygous Avellino CD and heterozygous Avellino CD, Heterozygous Lattice Type I, heterozygous Reis-Buckers CD and heterozygous Granular CD. Suitable primer and probe sets were designed to examine the exons 4 and 12 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 and specificity. We thus conclude that mutational analysis of
exons 4 and 12 of the βigh3 gene, which is the mutational hot spot in CDs, 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

• So Young Yoo [ Medigenes Co., Ltd ]
• Tae-im Kim [ Severance Hospital ]
• Sang Yup Lee [ KAIST (BK21 program) ] Corresponding Author
• Eung Kweon Kim [ Severance Hospital ]
• Ki Chang Keum [ Severance Hospital ]
• Nae Choon Yoo [ Severance Hospital ]
• Won Min Yoo [ Yongdong Severance Hospital ]

참고문헌

발행기관

간행물

표지보기 관심저널 등록

• 간행물명

  한국생물공학회 학술대회

• 간기

  반년간

• 수록기간

  1985~2013

• 십진분류

  KDC 476 DDC 576