Screening Mutation Of Related Genes In A Family With Autosomal Dominant Genetic Pulverulent Cataract

Purpose:To investigate the clinical characteristics in a Chinese family with autosomal do -minant congenital cataract. The method of gene sequencing was used to screen genes related with autosomal dominant genetic pulverulent cataract.Methods:The history of all patients were collected in the family with autosomal dominant genetic pulverulent cataract, Ophthalmological examinations in patients were performed with digital image acquisition and processing and comprehensive physical examinations were taken. Blood samples were collected with the vacuum tube containing anticoagulant for 30 members of this family. Genomic DNA was extracted in the laboratory of Biology Institute, Anhui Medical University.PCR amplification primers were designed according to the sequences of connexins gene(GJA8,GJA3)and crystallin gene(CRYBA1/A3,CRYBB1). The complete coding region and intron spliced sites of these genes were amplified with polyerase chain reaction (PCR),and we sequenced the products of PCR .The sequences of all patients of this pulverulent cataract family were compared with the normal sequences offered by GenBank.Results:All affected individuals displayed lens pulverulent opacities. The family were inherited as an autosomal dominant tait on the basis of generation-to-generation transmission and the equal proportion of affected males and females.The sequences of all patients of this pulverulent cataract family were compared with the normal sequences offered by GenBank. No mutations were found in complete coding region and intron spliced sites of these genes in all patients of this pulverulent cataract family.Conclusion:All affected individuals represented pulverulent opacities of lens. The family were inherited as an autosomal dominant tait.This known candidate genes associated with genetic pulverulent cataract were excluded from this family.Genetic heterogeneity is represented in autosomal dominant genetic pulverulent cataract ,This hereditary pulverulent cataract family may be caused by a new gene mutation.