Initial Study Of The CYP1B1 Gene Mutation In Chinese Primary Congenital Glaucoma Patient

Objective: The aim of this study was to understand the role of CYP1B1 (Cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in causing primary congenital glaucoma (PCG) in Chinese populations.Methods: The study included 16 cases of PCG from different district of China. Direct sequencing evaluated the coding and the promoter regions of CYP1B1 in PCG patients. Single strand conformation polymorphism (SSCP) analysis was used in normal groups to screen other mutations.Result: A pathogenic mutation (8006G>A, R390H) was observed in one case which has been described ever. It is a missense mutation in exon III. And we found five single nucleotide polymerases(snps) in PCG patients, they are 3793T>G, R48G, A119S, A330S, V432L.Conclusions: The mutation in CYP1B1 cause probably primarycongenital glaucoma in Chinese populations, but other mutations probably relate to PCG.