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L. Richter, F.R. B. von Bischhoffshausen, P. Flodman, M.A. Spence, J.B. Bateman; Identification of a Novel Locus in an Autosomal Dominant Cataract (ADC)Chilean Family. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):380.
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© ARVO (1962-2015); The Authors (2016-present)
ABSTRACT Purpose: To map the gene for ADC in a large Chilean family. Methods: ADC 52 is a four generation Chilean family consisting of 14 individuals with seven affected individuals. Clinically, all the affected patients had the cataract removed except one and the one patient with the lens had a plaque on the posterior capsule of the lens. SIMLINK analysis was used to estimate the power to detect linkage in ADC 52. We used our screening panel of twenty–five known ADC loci based on linkage analysis and identification of gene mutations. We screened the family using PCR amplifications performed separately for each primer set. The products were resolved on an ABI 373 using Genescan 2.1 software (Applied Biosystems). Two point LOD scores were calculated using LIPED. A genome wide screen using the ABI genetic mapping panel is underway. Results: For a tightly linked marker, we estimated that linkage analysis in this family will have 70% power to detect a LOD greater than 3; the maximum LOD score achieved over 1000 simulations was 3.25. We calculated LOD scores between the ADC 52 locus and markers on chromosomes 1, 2, 3, 10, 11, 12, 15, 16, 17, 19, 20, 21, and 22 and excluded all loci. Conclusions: Using our ADC screening panel, we excluded linkage in this family with all markers know to be linked to human ADC. Therefore, ADC 52 represents a novel ADC locus. We are completing a genome–wide screen to identify the novel locus.
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