Gelatinous drop-like corneal dystrophy is not one of the βig-h3-mutated corneal amyloidoses

被引：6

作者：

Dota, A ^{[1
]}

Nishida, K ^{[1
]}

Honma, Y ^{[1
]}

Adachi, W ^{[1
]}

Kawasaki, S ^{[1
]}

Quantock, AJ ^{[1
]}

Kinoshita, S ^{[1
]}

机构：

[1] Kyoto Prefectural Univ Med, Dept Ophthalmol, Kyoto 602, Japan

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1998年 / 126卷 / 06期

关键词：

D O I：

10.1016/S0002-9394(98)00186-X

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: To discover if beta ig-h3 is mutated in gelatinous drop-like corneal dystrophy, as has been suggested. METHODS: Genomic DNA was isolated from unrelated individuals with lattice corneal dystrophy type I (n = 3), Avellino corneal dystrophy (n 3), and gelatinous drop-like corneal dystrophy (n = 3) and used as a template for polymerase chain reaction to amplify all exons in beta ig-h3, The polymerase chain reaction product was then sequenced, RESULTS: beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124 Cys) and Avellino corneal dystrophy (Arg124His). In gelatinous drop-like corneal dystrophy, on the other hand, no mutation was detected in the entire coding region of beta ig-h3 (all 17 exons). CONCLUSION: Unlike the amyloidotic corneal dystrophies lattice type I and Avellino, gelatinous drop-like corneal dystrophy is not likely to be caused by a mutation in beta ig-h3, (Am J Ophthalmol 1998;126:832-833, (C) 1998 by Elsevier Science Inc. All rights reserved.).

引用

页码：832 / 833

页数：2

共 5 条

[1] CDNA FROM HUMAN OCULAR CILIARY EPITHELIUM HOMOLOGOUS TO BETA-IG-H3 IS PREFERENTIALLY EXPRESSED AS AN EXTRACELLULAR PROTEIN IN THE CORNEAL EPITHELIUM [J].

ESCRIBANO, J ;

HERNANDO, N ;

GHOSH, S ;

CRABB, J ;

COCAPRADOS, M .

JOURNAL OF CELLULAR PHYSIOLOGY, 1994, 160 (03) :511-521

[2] beta ig-h3 is synthesized by corneal epithelium and perhaps endothelium in Fuchs' dystrophic corneas [J].

Hirano, K ;

Klintworth, GK ;

Zhan, Q ;

Bennett, K ;

Cintron, C .

CURRENT EYE RESEARCH, 1996, 15 (09) :965-972

[3] Kerato-epithelin mutations in four 5q31-linked corneal dystrophies [J].

Munier, FL ;

Korvatska, E ;

Djemai, A ;

LePaslier, D ;

Zografos, L ;

Pescia, G ;

Schorderet, DF .

NATURE GENETICS, 1997, 15 (03) :247-251

[4] CDNA CLONING AND SEQUENCE-ANALYSIS OF BETA-IG-H3, A NOVEL GENE INDUCED IN A HUMAN ADENOCARCINOMA CELL-LINE AFTER TREATMENT WITH TRANSFORMING GROWTH-FACTOR-BETA [J].

SKONIER, J ;

NEUBAUER, M ;

MADISEN, L ;

BENNETT, K ;

PLOWMAN, GD ;

PURCHIO, AF .

DNA AND CELL BIOLOGY, 1992, 11 (07) :511-522

[5] A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA [J].

Yamamoto, S ;

Okada, M ;

Tsujikawa, M ;

Shimomura, Y ;

Nishida, K ;

Inoue, Y ;

Watanabe, H ;

Maeda, N ;

Kurahashi, H ;

Kinoshita, S ;

Nakamura, Y ;

Tano, Y .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :719-722

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