BIGH3Gene Mutations and Rapid Detection in Korean Patients With Corneal Dystrophy
作者:
Hae-Sook Kim,
Sungjoo Yoon,
Beom-Jin Cho,
Eung Kim,
Choun-Ki Joo,
期刊:
Cornea
(OVID Available online 2001)
卷期:
Volume 20,
issue 8
页码: 844-849
ISSN:0277-3740
年代: 2001
出版商: OVID
关键词: Corneal dystrophy;BIGH3gene;Mutation;Mutant-specific reverse primer;Rapid screening
数据来源: OVID
摘要:
Purpose.Mutations in theBIGH3gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether theBIGH3gene 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 theBIGH3gene 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.
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