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M.G. Papaioannou, R. Koenekoop, I. Lopez, Q. Prescott, S.S. Bhattacharrya; Genetic Analysis of Autosomal Dominant Retinitis Pigmentosa: Towards the Identification of a Novel Disease Locus . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4748.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Although eleven genetic loci are thought to account for the autosomal dominant form of retinitis pigmentosa (adRP), published data indicates the existence of additional loci in the human genome. Here we describe a four generation family with adRP and our linkage efforts to map the disease–causing gene. Methods: We have recruited 26 individuals of which 13 show symptoms of adRP after full clinical examination. Methodology includes DNA extraction, genotyping with the ABI linkage mapping set and linkage analysis. Results: After exclusion of linkage to the known adRP loci on chromosomes 1q, 3q, 6p, 7p, 7q, 8cen, 11q, 14q, 17p, 17q and 19q, a genome–wide scan was undertaken using ∼400 fluorescently labeled microsatellite markers. Thus far, fourteen chromosomes have been excluded in their entirety using two–point linkage analysis. Conclusions: We have identified a new family with adRP in an effort to map novel gene/s. Since the putative disease–causing gene did not map to the previously reported loci, a total genome scan is underway. So far, approximately 70% of the genome has been excluded in this family. Additional family members are being recruited in order to strengthen these results.
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