May 2005
Volume 46, Issue 13
ARVO Annual Meeting Abstract  |   May 2005
Fine–Mapping and Candidate Gene Analysis of Chromosome 10–Linked Thiel–Behnke Corneal Dystrophy (CDB2)
Author Affiliations & Notes
  • R.W. Yee
    Ophthalmology, Univerisity of Texas Health Science Center at Houston, Houston, TX
  • Footnotes
    Commercial Relationships  R.W. Yee, None.
  • Footnotes
    Support  NEI grant RO1 EY013117, Core Grant P 30 EY010608, Unrestricted Grant from the Research to prevent bl
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 4932. doi:
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      R.W. Yee; Fine–Mapping and Candidate Gene Analysis of Chromosome 10–Linked Thiel–Behnke Corneal Dystrophy (CDB2) . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4932.

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

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Abstract: : Purpose: We previously mapped Thiel–Behnke corneal dystrophy to chromosome 10q23–q24 (Yee et al. 1997, Genomics 46:152–154). This disease is also referred to as corneal dystrophy Bowman’s type II (CDB2). We previously reported a reduction of the CDB2 locus from 12 cM to 4 cM. We further hypothesized that additional recombination events might have occurred in the pedigree that would allow us to further reduce the locus. We reasoned that all affected patients in the family should share a common haplotype, which is different from another haplotype of the same affected patient as well as different from haplotypes of all unaffected patients. If recombination occurred within this 4 cM or 4.3 Mb DNA, the shared and disease–specific haplotype would be smaller than the whole region. We proposed that it was possible for us to identify this disease–specific haplotype. An additional purpose of this study was to identify disease–specific mutations by candidate gene analysis. Methods: Additional family members that we have not studied before may play crucial role in reduction of the CDB2 locus by linkage and haplotype analysis. We revisited our family and collected blood samples from 6 new members. We also redrew blood samples from 8 members that were included in our previous analysis. DNA was prepared from these 14 individuals and used for candidate gene mutation screening, linkage and haplotype analysis. Results: We analyzed 70% of 18 candidate genes and excluded a total of 5 genes as candidates so far. Most importantly, we reduced the CDB2 locus more than half from 4.3 Mb to 2 Mb, and subsequently reduced the number of candidate genes from 105 to 26, 3 of them were excluded by mutation analysis. Conclusions: The reduction of the CDB2 locus greatly increases the likelihood of cloning this disease gene.

Keywords: cornea: stroma and keratocytes • gene mapping • candidate gene analysis 

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