Gene mapping of a pedigree with autosomal dominant congenital cataract

Abstract

To map the gene for autosomal dominant congenital cataract (ADCC) in a Chinese family. Blood samples were collected from 14 members of this family. Linkage analysis was carried out using short tandem repeat polymorphism (STRP) in close proximity to genes and loci previously reported involving in human cataract. Two-point linkage analysis lod scores were calculated. The mutation gene locus in this pedigree was mapped to 17q, an 11.78-cM interval between markers D17S1288 and D17S933. Significant positive maximum LOD scores (Z(max)) at recombination fraction (theta) 0, were obtained for markers D17S805 (Z(max) = 2.03), D17S1294 (Z(max) = 2.49), and D17S1293 (Z(max) = 2.22). The mutation gene in this ADCC pedigree is located at chromosome 17q. This is the first report of an autosomal dominant congenital nuclear cataracts located at this locus. This result will be helpful for further studying of the pathogenesis of cataract.