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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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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.
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.
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%.
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.
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