May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Custom designed sequencing arrays to genotype patients with autosomal recessive retinitis pigmentosa (ARRP)
Author Affiliations & Notes
  • R. Ayyagari
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • M.N. A. Mandal
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • L. Chen
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • T. Burch
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • J.R. Heckenlively
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • P.A. Sieving
    Nei/nidcd, National Institutes of Health, Bethesda, MD
  • Footnotes
    Commercial Relationships  R. Ayyagari, None; M.N.A. Mandal, None; L. Chen, None; T. Burch, None; J.R. Heckenlively, None; P.A. Sieving, None.
  • Footnotes
    Support  RPB, EY13198, EY06094, EY07003,NEI/NIDCD Intramural, FFB,
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 2442. doi:
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    • Get Citation

      R. Ayyagari, M.N. A. Mandal, L. Chen, T. Burch, J.R. Heckenlively, P.A. Sieving; Custom designed sequencing arrays to genotype patients with autosomal recessive retinitis pigmentosa (ARRP) . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2442.

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

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Abstract

Abstract: : Purpose:To design and develop methodology to screen multiple genes to detect sequence alterations efficiently and effectively. Methods:We have utilized Affymetrix sequencing array technology to design a chip containing the sequences of multiple genes known to be associated with recessive retinitis pigmentosa. These chips are designed to identify all the nucleotide variations, micro deletions and insertions present in a group of gene sequences arrayed. The chip is not limited to the known mutations only. We amplify regions of interest from the DNA of patients diagnosed with ARRP. These amplicons are biotinylated and hybridization reactions are carried out using these probes. Results of hybridization are analyzed using custom designed sequencing array software. Results:We evaluated the sequences of 16 genes known to carry 95 different mutations in patients with a diagnosis of ARRP. Sequences of 10 genes carrying 87 of the 95 mutations were found to be suitable to be arrayed on chips. The chip is designed to detect sequence changes in the genes arrayed on the chips, including known and unknown mutations and polymorphisms. Detailed analysis of patient samples will be presented, and costs involved developing and analysis of samples and limitation of this technology will be discussed. Conclusions:Custom sequencing arrays can provide efficient tools to genotype patients with genetically heterogeneous diseases such as ARRP. These chips also will provide an opportunity to test the digenic and multigenic nature of phenotypes involving the genes arrayed on the chips. Careful selection of genes and grouping by disease category currently is a good strategy.

Keywords: gene microarray • gene screening • mutations 
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