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BIGH3 Gene Mutations and Rapid Detection in Korean Patients With Corneal Dystrophy

Authors
 Hae-Sook Kim ; Sungjoo Kim Yoon ; Choun-Ki Joo ; Eung Kweon Kim ; Beom-Jin Cho 
Citation
 Cornea, Vol.20(8) : 844~849, 2001 
Journal Title
 Cornea 
ISSN
 0277-3740 
Issue Date
2001
Abstract
PURPOSE: Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether the BIGH3 gene mutation was responsible for corneal dystrophy in Korean patients. METHODS: Polymerase chain reaction single strand conformational polymorphism (PCR-SSCP) analysis was performed with the DNA from patients and healthy individuals. We sequenced the PCR products with the aberrant SSCP pattern to identify the mutation. Mutant-specific reverse primers were used to screen genomic DNA for the identified mutations. RESULTS: We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy. We identified our granular dystrophy to be Avellino corneal dystrophy (ACD). Eighteen of 20 patients with a granular dystrophy contained the same R124H mutation, indicating that mutation R124H was very common in Korean patients with ACD. During this study, we identified a new polymorphism (T1667C, F540F). CONCLUSIONS: This is the first report of mutations found in the BIGH3 gene in Korean families with corneal dystrophy. We report that the majority (90%) of ACD patients in Korea carry the R124H mutation. Mutant-specific reverse primers can be used to screen efficiently for CDL1 and ACD.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/142187
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Ophthalmology
Yonsei Authors
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Link
 http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00003226-200111000-00013&LSLINK=80&D=ovft
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