A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma

• Autori principali: Grand Chikezie Ihesiulor (Autore), Forbes Manson (Autore), Udo Ahanna Ubani (Autore)
• Natura: Libro
• Pubblicazione: Journal of Clinical Research and Ophthalmology - Peertechz Publications, 2018-06-18.
• Soggetti: Research Article
• Accesso online: Connect to this object online.

<p><strong>Purpose:</strong> To detect pathogenic mutations in cytochrome P450 family1 subfamily B polypeptide1</p><p>(CYP1B1) gene in nineteen sporadic Primary congenital glaucoma (PCG) cases and to identify patients</p><p>lacking CYP1B1 mutations.</p><p><strong>Methods: </strong>CYP1B1 exon 2 and the coding part of exon 3 of 15 participants were amplifi ed by</p><p>Polymerase chain reaction and amplicons were sequenced by Sanger sequencing. Sequencing data was</p><p>analyzed to identify the gene mutations or Single Nucleotide Polymorphisms SNPs.</p><p><strong>Results:</strong> Four previously reported PCG-associated CYP1B1 mutations (c.1159G>A; p.E387K,</p><p>c.230T>C; p.L77P, c.1103G>A; p.R368H and c.1568G>A; p.R523K) were found in four patients out of the</p><p>15 fully 'sequenced' patients. Also, ten previously reported Single Nucleotide Polymorphisms and two</p><p>novel noncoding variants were identifi ed.</p><p><strong>Conclusion: </strong>The relatively low percentage of PCG patients having CYP1B1 mutations (4/15=26.6%)</p><p>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.</p>