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

Inherited cataract is a clinically and genetically heterogeneous disease.Here we report the identification of a new locus for an autosomal dominantanterior polar cataract on the short arm of chromosome 17. To map this newlocus we performed genetic linkage analysis with microsatellite markers ina four-generation pedigree. After exclusion of seven candidate loci forcataract, we obtained significant positive LOD scores for markers D17S849(Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipointanalysis gave a maximum LOD score of 5.2 (theta max = 0.06) between thesetwo markers. From haplotype analysis, the cataract locus lies in the 13 cMinterval between markers D17S849 and D17S796. This study provides the firstgenetic mapping of an autosomal dominant anterior polar cataract.