caa a22 4500 397573898 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1055 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1055 The Gene Responsible for Autosomal Dominant Doyne's Honeycomb Retinal Dystrophy (DHRD) Maps to Chromosome 2p16 [Elektronische Daten] [Cheryl Y. Gregory, Kevin Evans, Sujeewa D. Wijesuriya, Sana Kermani, Marcelle R. Jay, Catherine Plant, Nigel Cox, Alan C. Bird, Shomi S. Bhattacharya] Degeneration in the macula region of the retina is a feature of a heterogeneous group of inherited, progressive disorders, causing blinding visual impairment. Autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) is characterised by the presence of drusen deposits at the level of Bruch's membrane in the macula and around the edge of the optic nerve head. We have studied 63 members of a large, nine-generation British pedigree by linkage analysis. Two-point analysis showed significant linkage to nine markers on the short arm of chromosome 2, a region overlapping that recently reported to be linked to Malattia leventinese. A maximum lod score (Zmax) of 7.29 (θ=0.0) was obtained at marker locus D2S2251. Haplotype analysis of recombination events localised the disease to a 5 cM region between marker loci D2S2316 and D2S378. Striking clinical similarities between DHRD and the more common condition age-related macular degeneration (ARMD) suggest that the disease gene at this locus could be considered as the most likely candidate in future studies on ARMD. © 1996 Oxford University Press Gregory Cheryl Y. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Evans Kevin Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Wijesuriya Sujeewa D. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Kermani Sana Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Jay Marcelle R. Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Plant Catherine Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Cox Nigel Department of Ophthalmology, Wycombe General Hospital, Queen Alexandra Road, High Wycombe, Bucks HP11 2TT, UK aut Bird Alan C. Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Bhattacharya Shomi S. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1055-1059 0964-6906 5:7<1055 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1055 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1055 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gregory Cheryl Y. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Evans Kevin Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Wijesuriya Sujeewa D. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Kermani Sana Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Jay Marcelle R. Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Plant Catherine Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Cox Nigel Department of Ophthalmology, Wycombe General Hospital, Queen Alexandra Road, High Wycombe, Bucks HP11 2TT, UK aut NATIONALLICENCE 700 1- Bird Alan C. Department of Clinical Ophthalmology, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 700 1- Bhattacharya Shomi S. Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1055-1059 0964-6906 5:7<1055 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