아벨리노 각막이상증 진단에 있어 DNA 칩의 민감도 및 특이도 평가

• 영문명: Evaluation of Sensitivity and Specificity of DNA Chip for Diagnosis of Granular Corneal Dystrophy II
• 발행기관: 대한안과학회
• 저자명: 김욱겸 유소영 하병진 김상우 이상엽 김태임 조지연 김응권,Wook Kyum Kim, M.D., So Young Yoo,,, Byoung Jin Ha, M.D., Sang Woo Kim, M.D., Sang Yup Lee,,, Tae-Im Kim, M.D., Jee Youn Cho,, Eung Kweon Kim, M.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume49,number8, 1220~1225쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.08.15

영문 초록

Purpose: To evaluate the sensitivity and specificity of the DNA chip method in diagnosing patients with granular corneal dystrophy type II (GCD II) induced by mutation of the βigh3 gene. Methods: Two hundred twenty-seven patients who visited Severance Eye hospital, corneal dystrophy clinic, from 1 July 2006 to 30 September 2007 were included in this study after history taking and review of their medical records. All subjects were examined by slit lamp microscopy, and blood sampling was done. The sampled blood was used in DNA sequencing and the DNA chip method. Results: Among 227 subjects, 125 (54.6%) patients had GCD II and 103 (45.4%) patients showed normal results according to the DNA sequencing method. The sensitivity and specificity of the DNA chip method were both 100%, while the sensitivity of the slit lamp method was 99.19% and the specificity was 100%. Conclusions: The DNA chip method for diagnosing GCD II is a more simple, time-saving, and accurate method than DNA sequencing method, and the sensitivity and specificity were both 100%. J Korean Ophthalmol Soc 49(8):1220-1225, 2008

키워드

Corneal dystrophy, DNA chip, Sensitivity, βigh3 gene