A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma

Purpose: To detect pathogenic mutations in cytochrome P450 family1 subfamily B polypeptide1 (CYP1B1) gene in nineteen sporadic Primary congenital glaucoma (PCG) cases and to identify patients lacking CYP1B1 mutations. Methods: CYP1B1 exon 2 and the coding part of exon 3 of 15 participants were amplifi ed by Polymerase chain reaction and amplicons were sequenced by Sanger sequencing. Sequencing data was analyzed to identify the gene mutations or Single Nucleotide Polymorphisms SNPs