May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Mutation Screen in CRYBB Genes in 379 Patients With Age-Related Macular Degeneration
Author Affiliations & Notes
  • G. M. Sturgill
    Louis Stokes VA Medical Center, Cleveland, Ohio
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
  • E. Bala
    Louis Stokes VA Medical Center, Cleveland, Ohio
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
  • S. Yaniglos
    Louis Stokes VA Medical Center, Cleveland, Ohio
    Case Western Reserve University, Cleveland, Ohio
  • J. W. Crabb
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
    Case Western Reserve University, Cleveland, Ohio
  • J. G. Hollyfield
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
    Case Western Reserve University, Cleveland, Ohio
  • H. Lewis
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
  • N. S. Peachey
    Louis Stokes VA Medical Center, Cleveland, Ohio
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
  • S. A. Hagstrom
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio
    Case Western Reserve University, Cleveland, Ohio
  • Footnotes
    Commercial Relationships  G.M. Sturgill, None; E. Bala, None; S. Yaniglos, None; J.W. Crabb, None; J.G. Hollyfield, None; H. Lewis, None; N.S. Peachey, None; S.A. Hagstrom, None.
  • Footnotes
    Support  AHAF, Karl Kirschgessner Foundation, VA Medical Research Service, FFB, EY15638, RPB
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1710. doi:
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    • Get Citation

      G. M. Sturgill, E. Bala, S. Yaniglos, J. W. Crabb, J. G. Hollyfield, H. Lewis, N. S. Peachey, S. A. Hagstrom; Mutation Screen in CRYBB Genes in 379 Patients With Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1710.

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

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Abstract

Purpose: : βγ-Crystallins are a superfamily (CRYBA1-A4, CRYBB1-3, CRYGA-F) of small heat shock proteins expressed primarily in the ocular lens, and in low levels in other tissues. Since CRYBB1 and CRYBB2 are common drusen proteins in age-related macular degeneration (AMD) eyes, we investigated CRYBB1 and CRYBB2 as candidate genes for AMD.

Methods: : All five coding exons of each CRYBB1 and CRYBB2 were screened for mutations in 379 unrelated patients with AMD using a combination of exon-by-exon SSCP and direct genomic sequencing. A previously reported pseudogene, CRYBB2P1, was detected and excluded.

Results: : Five sequence changes (Gly25Glu, Arg60Thr, IVS3+16C->A, Arg110Cys and IVS4+15G->A) were identified in CRYBB1. Gly25Glu had an allele frequency of 0.13% in patients and was absent in 381 age-matched normal controls. Both the Arg60Thr and IVS4+15G->A changes were identified in one age-matched normal control each, but absent in patients. IVS3+16C->A was identified heterozygously with an allele frequency of 4.62% in patients. Arg110Cys had an allele frequency of 0.79% in patients and 0.26% in age-matched controls. Two sequence changes (IVS2+24G->T and IVS4-22A->G) were identified in CRYBB2. Both intron changes were identified with an allele frequency of 0.13%.

Conclusions: : We report seven sequence changes in CRYBB in patients with AMD. However, we cannot associate these changes with AMD and they are likely nonpathogenic polymorphisms.

Keywords: genetics • gene screening • age-related macular degeneration 
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