May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Mutation Screening of Collagen Type VIII Alpha 1 Chain (COL8A1) in Patients With Corneal Endothelial Dystrophy
Author Affiliations & Notes
  • T. Fujimaki
    Dept of Ophthalmology, Juntendo Univ Sch of Med, Tokyo, Japan
  • K. Fujiki
    Dept of Ophthalmology, Juntendo Univ Sch of Med, Tokyo, Japan
  • T. Kato
    Dept of Ophthalmology, Juntendo Univ Sch of Med, Tokyo, Japan
  • A. Murakami
    Dept of Ophthalmology, Juntendo Univ Sch of Med, Tokyo, Japan
  • Footnotes
    Commercial Relationships  T. Fujimaki, None; K. Fujiki, None; T. Kato, None; A. Murakami, None.
  • Footnotes
    Support  Japan society for the promotion of science
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 3868. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      T. Fujimaki, K. Fujiki, T. Kato, A. Murakami; Mutation Screening of Collagen Type VIII Alpha 1 Chain (COL8A1) in Patients With Corneal Endothelial Dystrophy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3868.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: Corneal endothelial dystrophy is divided into 3 types including Fuchs’ endothelial corneal dystrophy (FECD), posterior polymorphous dystrophy (PPMD), and congenital hereditary endothelial dystrophy (CHED), and each of these groups is regarded as a disease exhibiting genetic heterogeneity. We performed random sequence and similarity search analysis of 1,000 clones from rabbit corneal endothelial cDNA library in a previous study. Collagen type VIII alpha 1 chain (COL8A1) was the most frequently observed cDNA in the library. In the present study, we screened COL8A1 mutation in 19 patients with corneal endothelial dystrophy to evaluate COL8A1 as a candidate gene for this dystrophy. Methods: Genomic DNAs were extracted from leukocytes of peripheral blood collected, with informed consent, from 19 patients. We designed primers using the latest database including human genome sequences and amplified the COL8A1 coding region from genomic DNAs of patients using a PCR method. Denaturing high performance liquid chromatography (DHPLC) with hetero duplex method was used to detect mutations, and the dye terminator method was used for sequencing. Results: None of 19 patients had a mutation in the 540 bp range of the 5’ region in exon 2. Investigation of other regions is in progress. Conclusions: Although it cannot be concluded that COL8A1 is a causal gene for corneal endothelial dystrophy from findings obtained thus far, it is considered an important candidate gene since collagen type VIII is composed of a triple helix consisting of two alpha 1 chains and one alpha 2 chain. It is necessary to increase the number of patients and advance the mutation analysis.

Keywords: cornea: endothelium • genetics • mutations 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×