A locus for autosomal dominant anterior polar cataract on chromosome 17p

Vanita Berry, Alexander C.W. Ionides, Anthony T. Moore, Catherine Plant, Shomi S. Bhattacharya, Alan Shiels

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63 Scopus citations

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 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.

Original languageEnglish
Pages (from-to)415-419
Number of pages5
JournalHuman molecular genetics
Volume5
Issue number3
DOIs
StatePublished - Mar 1 1996
Externally publishedYes

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    Berry, V., Ionides, A. C. W., Moore, A. T., Plant, C., Bhattacharya, S. S., & Shiels, A. (1996). A locus for autosomal dominant anterior polar cataract on chromosome 17p. Human molecular genetics, 5(3), 415-419. https://doi.org/10.1093/hmg/5.3.415