May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Mutation screening of genes from the RP17 interval in patients with autosomal dominant retinitis pigmentosa (adRP)
Author Affiliations & Notes
  • C.F. Chakarova
    Molecular Genetics, Institute of Ophthalmology, UCL, London, United Kingdom
  • A.I. den Hollander
    Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
  • F.P. M. Cremers
    Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
  • B. Wissinger
    Genetics,
    University Eye Hospital, Tubingen, Germany
  • E. Zrenner
    Pathophysiology of vision,
    University Eye Hospital, Tubingen, Germany
  • S.S. Bhattacharya
    Molecular Genetics, Institute of Ophthalmology, UCL, London, United Kingdom
  • Footnotes
    Commercial Relationships  C.F. Chakarova, None; A.I. den Hollander, None; F.P.M. Cremers, None; B. Wissinger, None; E. Zrenner, None; S.S. Bhattacharya, None.
  • Footnotes
    Support  Foundation Fighting Blindness, USA
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4741. doi:
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      C.F. Chakarova, A.I. den Hollander, F.P. M. Cremers, B. Wissinger, E. Zrenner, S.S. Bhattacharya; Mutation screening of genes from the RP17 interval in patients with autosomal dominant retinitis pigmentosa (adRP) . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4741.

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

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Abstract

Abstract: : Purpose: To screen candidate genes mapping to the RP17 interval on chromosome 17q23 in a large panel of clinically well characterised patients with adRP. The genes have been selected from a region defined by published markers D17S1604 and D17S948 based on their specific function and expression pattern. This is the only remaining locus for adRP for which the gene has not yet been cloned. Methods: Using the Ensembl database 21 known and 11 predicted genes have been found in the critical interval. Three genes (NM_152598, NM_173503, NM_181707) based on their predicted protein domain structure have been considered appropriate candidates for RP. Specific primers corresponding to their coding region have been designed and used for direct sequencing in adRP patients. Results: No disease causing mutations have been identified to date. Several silent mutations and polymorphisms have been found within the coding and 3’ UTR regions of all three genes. Conclusions: Based on this initial screening it appears that these genes are unlikely to be associated with RP. Many other genes within the mapped region still remain to be investigated.

Keywords: photoreceptors • candidate gene analysis • retinal degenerations: hereditary 
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