Amyloid and Pro501Thr-mutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

被引：38

作者：

Kawasaki, S

Nishida, K

Quantock, AJ

Dota, A

Bennett, K

Kinoshita, S

机构：

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

[2] Bristol Myers Squibb, Princeton, NJ USA

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1999年 / 127卷 / 04期

关键词：

D O I：

10.1016/S0002-9394(98)00360-2

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: To assess the relative distribution in the cornea of amyloid and beta ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA), METHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to beta ig-h3, Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of beta ig-h3, RESULTS: Exon 11 of beta ig-h3 was mutated (Pro501Thr), Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid, These regions of the tissue were also highly immunoreactive with the antibody to the beta ig-h3 gene product. CONCLUSION: Amyloid and Pro501Thr-mutated beta ig-h3 protein accumulate and colocalize in LCD-IIIA. (Am J Ophthalmol 1999;127:456-458. (C) 1999 by Elsevier Science Inc. All rights reserved.).

引用

页码：456 / 458

页数：3

共 5 条

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Klintworth GK, 1998, AM J PATHOL, V152, P743

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