May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Resequencing Array for Detection of Mutations in Common Genes Involved With Inherited Retinal Dystrophies
Author Affiliations & Notes
  • I. M. MacDonald
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • N. Smaoui
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • D. Stiles
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • M. Ben Hamad
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • N. Stunnikova
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • J. F. Hejtmancik
    National Eye Institute, National Insitutes of Health, Bethesda, Maryland
  • Footnotes
    Commercial Relationships  I.M. MacDonald, None; N. Smaoui, None; D. Stiles, None; M. Ben Hamad, None; N. Stunnikova, None; J.F. Hejtmancik, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1692. doi:https://doi.org/
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    • Get Citation

      I. M. MacDonald, N. Smaoui, D. Stiles, M. Ben Hamad, N. Stunnikova, J. F. Hejtmancik; Resequencing Array for Detection of Mutations in Common Genes Involved With Inherited Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1692. doi: https://doi.org/.

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

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Abstract

Purpose: : For research and diagnostic purposes, an efficient way to rapidly screen patients for mutations in genes associated with heritable eye disorders would be helpful. Affymetrix resequencing arrays were designed and manufactured for the high-throughput detection of mutations across the most common genes involved in inherited retinal dystrophies.

Methods: : DNA samples from patients in which the causative mutations for the inherited retinal dystrophies were unknown were assayed in a high-throughput fashion using custom designed resequencing arrays. The arrays contained a total content of 267,550 bases of both sense and antisense sequence, spanning 93 genes containing 1,470 exons. Each gene represented on the array was causative of or correlated with a wide range of inherited retinal dystrophies including macular degeneration, choroideremia, Usher syndrome, retinitis pigmentosa and Bardet-Biedl syndrome.

Results: : A total of 607 long (~1,500 -6,000 bases) and short range (~300 -1,400 bases) PCR assays were designed, tested and primer specificity confirmed with BigDye terminator sequencing technology.

Conclusions: : We have developed a custom Affymetrix resequencing array for the high-content detection of mutations causing retinal disorders. This array will provide a valuable tool for the high-throughput detection of novel mutations in a broad range of genes associated with inherited retinal disorders.

Keywords: gene screening • retinal degenerations: hereditary • gene microarray 
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