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Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the βigh3 gene

 So Young Yoo  ;  Tae-Im Kim  ;  Won Min Yoo  ;  Nae Choon Yoo  ;  Ki Chang Keum  ;  Eung Kweon Kim  ;  Sang Yup Lee 
 BRITISH JOURNAL OF OPHTHALMOLOGY, Vol.91(6) : 722-727, 2007 
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Aim: To develop a diagnostic DNA chip to detect mutations in the βigh3 gene causing the most common corneal dystrophies (CDs). Methods: Samples from 98 people, including patients with βigh3-associated CDs (β-aCDs), were examined. Specific primer and probe sets were designed to examine exons 4 and 12 of the βigh3 gene, in order to identify mutant and wild-type 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 βigh3 gene in the patients’ genome showed that β-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 β-aCDs with a sensitivity of 100%. Mutational analysis of exons 4 and 12 of the βigh3 gene, which are the mutational hot spots causing β-aCDs, can be successfully performed with the DNA chip. Thus, this DNA chip-based method should allow a convenient, yet highly accurate, diagnosis of β-aCDs, and can be further applied to diagnose other types of CDs.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Plastic and Reconstructive Surgery (성형외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiation Oncology (방사선종양학교실) > 1. Journal Papers
Yonsei Authors
Keum, Ki Chang(금기창) ORCID logo https://orcid.org/0000-0003-4123-7998
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Kim, Tae-Im(김태임) ORCID logo https://orcid.org/0000-0001-6414-3842
Yoo, Nae Choon(유내춘)
Yoo, Won Min(유원민)
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