Evaluation of Sensitivity and Specificity of DNA Chip for Diagnosis of Granular Corneal Dystrophy II

Wook Kyum Kim; So Young Yoo; Byoung Jin Ha; Sang Woo Kim; Sang Yup Lee; Tae-Im Kim; Cho Jee Youn; Eung Kweon Kim

doi:10.3341/jkos.2008.49.8.1220

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Kim, Yoo, Ha, Kim, Lee, Kim, Jee Youn, and Kim: Evaluation of Sensitivity and Specificity of DNA Chip for Diagnosis of Granular Corneal Dystrophy II

Original Article

J Korean Ophthalmol Soc 2008;49(8):1220-1225.

Published online: 7 September 2008

DOI: https://doi.org/10.3341/jkos.2008.49.8.1220

Evaluation of Sensitivity and Specificity of DNA Chip for Diagnosis of Granular Corneal Dystrophy II

Wook Kyum Kim, M.D.¹, So Young Yoo^2,³, Byoung Jin Ha, M.D.¹, Sang Woo Kim, M.D.¹, Sang Yup Lee^2,⁴, Tae-Im Kim, M.D.¹, Cho Jee Youn³, Eung Kweon Kim, M.D.¹

Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea

Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea

Medigenes, Seoul, Korea

Centre for Systems and Synthetic Biotechnology, Institute for the Bio Century, Korea Advanced Institute of Science and Technology, Daejon, Korea

Address reprint requests to Eung Kweon Kim, M.D. Department of Ophthalmology Severance Hospital College of Medicine, Yonsei University #134 Sinchon-dong, Seodaemun-gu, Seoul 120-752, Korea Tel: 82-2-2228-3577, Fax: 82-2-312-0541, E-mail: eungkkim@yumc.yonsei.ac.kr

Received 15 April 2007 Accepted 9 January 2008

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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 β igh3 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%.

Keywords: Corneal dystrophy, DNA chip, Sensitivity, β igh3 gene

References

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tables

Table 1.

Demographic features of the patients

	Cornea dystrophy N (%)	Normal N (%)	Total N (%)
Sex
Male	40 (32.26)	43 (41.75)	83 (36.56)
Female	84 (67.74)	60 (58.25)	144 (63.44)
Age
-10	4 (3.23)	2 (1.94)	6 (2.64)
11-20	12 (9.68)	11 (10.68)	23 (10.13)
21-30	34 (27.42)	21 (20.39)	55 (24.23)
31-40	20 (16.13)	24 (23.30)	44 (19.38)
41-50	18 (14.52)	19 (18.45)	37 (16.30)
51-60	21 (16.94)	16 (15.53)	37 (16.30)
60-70	10 (8.06)	6 (5.83)	16 (7.05)
71-80	4 (3.23)	3 (2.91)	7 (3.08)
80-	1 (0.81)	1 (0.97)	2 (0.88)
Mean±SD	37.78±17.12	38.08±16.03	37.92±16.60
Systemic disease*
More than one	24 (19.35)	15 (14.56)	39 (17.18)
None	100 (80.65)	88 (85.44)	188 (82.82)
Total	124 (54.63)	103 (45.37)	227 (100.00)

^* Hypertension, angina, hyperlipidemia.

Table 2.

Sensitivity and specificity of slit lamp exam method

		Dignosed by slit lamp^†

	Normal	ACD^‡, heterozygote	ACD, homozygote	Total	Sensitivity of slit lamp method (%)
Diagnosis*
Normal	103	0	0	103
ACD, heterozygote ACD, homozygote	10	119 0	0 4	120 4	99.19
Total	104	119	4	227
Specificity of slit lamp method (%)		100.0

^* Diagnosed by DNA sequencing method;

^† Diagnoded by slit lamp biomicroscopic findings

^‡ Avellino corneal dystrophy.

Table 3.

Sensitivity and specificity of DNA chip

Diagnosed by DNA chip^†
	Normal	ACD, heterozygote	ACD, homozygote	Total	Sensitivity of DNA chip method (%)
Diagnosis*
Normal	103	0	0	103
ACD, heterozygote	0	120	0	120	100.0
ACD, homozygote	0	0	4	4
Total	103	120	4	227
Specificity of DNA chip method (%)		100.0

^* Diagnosed by DNA sequencing method;

^† Diagnoded by DNA chip method.

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