Purpose: To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC).
Methods: A Chinese family with ADCC was identified and characterized. All the members were genotyped with microsatellite markers at genes and loci that were considered to be associated with hereditary cataracts. Linkage analysis was performed after genotyping. Two-point Logarithm of odds (LOD) scores were calculated using MLINK software, from the LINKAGE program package. Multipoint parametric and non-parametric linkage were performed via the program MERLIN.
Results: Linkage analysis provided evidence for a genetic locus for the ADCC on chromosome 3q. The maximum Two-point LOD score was 3.01 (theta=0) for two close markers.
Conclusions: The mapping of the congenital cataracts in a Chinese family locus to chromosome 3q.