title: A locus for autosomal dominant anterior polar cataract on chromosome 17p.
abstract: 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 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (theta 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.
authors.affiliation: Department of Molecular Genetics, University College London, UK.
authors.forename: V
authors.initials: V
authors.lastname: Berry
authors.forename: A C
authors.initials: AC
authors.lastname: Ionides
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
authors.forename: C
authors.initials: C
authors.lastname: Plant
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: A
authors.initials: A
authors.lastname: Shiels
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers