TY - JOUR
T1 - A locus for autosomal dominant anterior polar cataract on chromosome 17p
AU - Berry, Vanita
AU - Ionides, Alexander C.W.
AU - Moore, Anthony T.
AU - Plant, Catherine
AU - Bhattacharya, Shomi S.
AU - Shiels, Alan
N1 - Funding Information:
We thank the family for their cooperation in this study, Neil Ebenezer and Mai Al-Maghtheh for help with computing LOD scores and the UK Human Genome Mapping Resource Centre (Cambridge, UK) for microsatellite primer synthesis and use of computing facilities. This work is supported by a grant from The Wellcome Trust (043073/Z/94/Z). AI is supported by a grant from the Friends of Moorfields Eye Hospital.
PY - 1996/3
Y1 - 1996/3
N2 - 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 D178849 (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.
AB - 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 D178849 (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.
UR - http://www.scopus.com/inward/record.url?scp=0030066487&partnerID=8YFLogxK
U2 - 10.1093/hmg/5.3.415
DO - 10.1093/hmg/5.3.415
M3 - Article
C2 - 8852669
AN - SCOPUS:0030066487
SN - 0964-6906
VL - 5
SP - 415
EP - 419
JO - Human molecular genetics
JF - Human molecular genetics
IS - 3
ER -