Mapping of a pedigree with autosomal dominant inherited congenital sutural cataract

Abstract

To map the gene responsible for autosomal dominant congenital sutural cataract of a Chinese family. Peripheral blood samples were collected from the members in a family with autosomal dominant congenital sutural cataract. The genomic DNA was extracted from the blood samples. A genescan was performed using approximately 400 microsatellite markers (ABI). Linkage analysis was processed by Linkage software package to define the location of mutation gene. High density primers labeled with fluorescent stain for the positive region were adopted for fine targeting, and haplotype analysis was processed using Cyrillic software. The maximum two-point LOD scores was obtained at D3S1279, Z(max) = 2.32 (theta(max) = 0.00). After fine targeting and haplotype analysis, the gene was located within a 38.6 cM region between D3S1267 and D3S1614. The gene responsible for congenital sutural cataract in a Chinese pedigree is located at chromosome 3q21.1 - q26.2 within a 38.6 cM region.