caa a22 4500 397575009 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.415 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.415 A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p [Elektronische Daten] [Vanita Berry, Alexander C. W. lonides, Anthony T. Moore, Catherine Plant, Shomi S. Bhattacharya, Alan Shiels] Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained significant positive LOD scores for markers D17S849 (Z = 4.01 @ θ = 0.05) and D17S796 (Z = 4.17 @ θ = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (θ max = 0.06) between these two markers. From haplotype analysis, the cataract locus lies in the 13 cM interval between markers D17S849 and D17S796. This study provides the first genetic mapping of an autosomal dominant anterior polar cataract. © 1996 Oxford University Press Berry Vanita Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut lonides Alexander C. W. Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut Moore Anthony T. Moorfields Eye Hospital, City Road, London ECIV 2PD, UK aut Plant Catherine Moorfields Eye Hospital, City Road, London ECIV 2PD, UK aut Bhattacharya Shomi S. Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut Shiels Alan Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 415-419 0964-6906 5:3<415 1996 5 hmg https://doi.org/10.1093/hmg/5.3.415 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.415 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Berry Vanita Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- lonides Alexander C. W. Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Moore Anthony T. Moorfields Eye Hospital, City Road, London ECIV 2PD, UK aut NATIONALLICENCE 700 1- Plant Catherine Moorfields Eye Hospital, City Road, London ECIV 2PD, UK aut NATIONALLICENCE 700 1- Bhattacharya Shomi S. Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Shiels Alan Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 415-419 0964-6906 5:3<415 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford