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L.C. Richter, D. Burch, F.R. Barría von Bischhoffshausen, P. Flodman, S. Brown, L. Nguyen, J. Turner, M.A. Spence, J.B. Bateman; Mapping of an Autosomal Dominant Cataract (ADC) Chilean Family to Chromosome 21q . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2521.
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© ARVO (1962-2015); The Authors (2016-present)
To map and identify the gene for autosomal dominant cataracts (ADC) in a large Chilean family.
ADC54 is a four–generation Chilean family consisting of 31 individuals with 13 individuals affected with cataracts. 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 ADC54. We screened the family with a panel of polymorphic DNA markers for known ADC loci and the ABI Prism Linkage Mapping Set Version 2.5 using PCR amplifications performed separately for each primer set. The products were resolved on an ABI 373/3100 AVANT using Genemapper 3.5.1 software. Two point lod scores were calculated using LIPED.
For a tightly–linked marker, we estimated over 1000 simulations that the maximum achievable lod score would be 6.51. We calculated lod scores between the ADC 54 locus and known ADC loci and markers from the ABI Prism Linkage Mapping Set Version 2.5. We calculated lod scores between the ADC54 locus and known ADC loci and markers from the ABI Prism Linkage Mapping Set Version 2.5. Marker D21S266 gave a lod score of 3.76 (theta m=theta f=0), indicating linkage to chromosome 21q.
Using our ADC screening panel and the ABI Prism Linkage Mapping Set Version 2.5, we found linkage to chromosome 21q. We are currently sequencing the crystallin alpha–A, a candidate gene in the area.
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