May 2008
Volume 49, Issue 13
ARVO Annual Meeting Abstract  |   May 2008
Development of Coding SNPs as Markers for Retinal Dystrophy Loci on Chromosome 6q
Author Affiliations & Notes
  • C. O'Driscoll
    Molecular Genetics, Institute of Ophthalmology, UCL, London, United Kingdom
  • Footnotes
    Commercial Relationships  C. O'Driscoll, None.
  • Footnotes
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1303. doi:
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    • Get Citation

      C. O'Driscoll; Development of Coding SNPs as Markers for Retinal Dystrophy Loci on Chromosome 6q. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1303. doi:

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

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Purpose: : To develop gene specific markers for retinal degenerations mapping to chromosome 6q.

Methods: : Ten genes within the chromosome 6q interval were selected as good candidates based on expression profiles, position in the interval and their homology to other retinal disease causing genes. The coding regions, splice sites, and the 5` UTR of candidate genes were amplified by polymerase chain reaction (PCR) in a control population. Direct sequence analysis was undertaken using an ABI 3730 automated sequencer.

Results: : Novel sequence variants including single nucleotide polymorphisms (SNPs) and deletions were identified. In total 29 sequence variants were identified of which 7 were in the coding sequence, and a further 22 were found to be in the intervening sequences of these genes. A significant proportion of the SNPs were found to be heterozygous and through allele frequency have proven to be informative. Many other previously identified SNPs were also identified while screening.

Conclusions: : We conclude that coding SNPs of sequence variants are useful as markers for mapping retinal degeneration loci on chromosome 6q.

Keywords: retinal degenerations: cell biology • gene mapping • retina 

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