A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma
Journal Title: Journal of Clinical Research and Ophthalmology - Year 2018, Vol 5, Issue 1
Abstract
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 amplified 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. Results: Four previously reported PCG-associated CYP1B1 mutations (c.1159G>A; p.E387K, c.230T>C; p.L77P, c.1103G>A; p.R368H and c.1568G>A; p.R523K) were found in four patients out of the 15 fully ‘sequenced’ patients. Also, ten previously reported Single Nucleotide Polymorphisms and two novel noncoding variants were identified. Conclusion: The relatively low percentage of PCG patients having CYP1B1 mutations (4/15=26.6%) demonstrates that other known and unknown genes may contribute to PCG pathogenesis. Lack of CYP1B1 gene mutations in some patients stresses the need to identify other responsible candidates.
Authors and Affiliations
Ihesiulor Grand Chikezie, Manson Forbes, Ubani Udo Ahanna
Keywords
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- EP ID EP301243
- DOI 10.17352/2455-1414.000049
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