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J. Bateman, L. Richter, F.R. B. von Bischhoffshausen, P. Flodman, M.A. Spence; Screening of an Autosomal Dominant Cataract Family (ADC 54) for Known ADC Loci. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):379.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To map and identify the gene for ADC in a large Chilean family. Methods: ADC 54 is a four generation Chilean family consisting of 31 individuals with 13 affected individuals. Clinically, affected individuals had cataracts with variable morphology (anterior polar, cortical, embryonal; one affected individual had microcornea). SIMLINK analysis was used to estimate the power to detect linkage in ADC 53. We screened the family with a panel of markers for known ADC loci 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. Results: For a tightly linked marker, we estimated that the maximum LOD score achieved over 1000 simulations was 6.51. We calculated LOD scores between the ADC 54 locus and markers on chromosomes 1, 2, 10, 11, 12, 13, 16, and 17, and excluded all based on lack of evidence of linkage or co–segregation. Conclusions: Using our ADC screening panel, we excluded linkage in this family with markers known to be linked to human ADC. This excludes the following known ADC loci: CCA, CTPA, CZP1, CRYGEP1, PITX, CRYAB, CZP3, CTM, and CCZS.
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