AIM:To detect the pathogenic gene in a four-generation family with autosomal dominant congenital cataract.METHODS:Fifteen members of the family(including eight affected and seven unaffected individuals)were enrolled into the study.The fifteen individuals underwent full ophthalmological and clinical examinations to rule out any concomitant disorders.Blood samples were collected from all the 15 subjects for genomic DNA preparation.Microsatellite markers which were near the reported loci to be associated with autosomal dominant congenital cataract were selected,and amplified from each DNA sample using polymerase chain reactions(PCR).Then the PCR products were separated and analyzed by polyacrylamide gel electrophoresis.Location analysis was performed by linkage analysis,Lod scores of possibly linkaged markers were calculated.According to the allele and the relation between family members,the family haplotype was constructed artificially.For the ascertained domain in the chromatosome,gene sequencing was performed to identify the mutation.RESULTS:The phenotype of the family is perinuclear cataract.The Lod scores were 2.71 in the polymorphic microsatellite markers on 17q11-12 and all the affected had the same allele,indicating that there was linkage between these microsatellite markers and congenital cataract related genes in this family.Gene sequencing did not found CRYBA1/A3 mutation.CONCLUSION:The pathogenic mutation is not caused by the mutation of the exons and untranslated region in CRYBA1/A3.There may be other gene mutation or mechanism leading to the morbility of this autosomal dominant congenital cataract.