A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma
<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>...
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Journal of Clinical Research and Ophthalmology - Peertechz Publications,
2018-06-18.
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LEADER | 00000 am a22000003u 4500 | ||
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001 | peertech__10_17352_2455-1414_000049 | ||
042 | |a dc | ||
100 | 1 | 0 | |a Grand Chikezie Ihesiulor |e author |
700 | 1 | 0 | |a Forbes Manson |e author |
700 | 1 | 0 | |a Udo Ahanna Ubani |e author |
245 | 0 | 0 | |a A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma |
260 | |b Journal of Clinical Research and Ophthalmology - Peertechz Publications, |c 2018-06-18. | ||
520 | |a <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> | ||
540 | |a Copyright © Grand Chikezie Ihesiulor et al. | ||
546 | |a en | ||
655 | 7 | |a Research Article |2 local | |
856 | 4 | 1 | |u https://doi.org/10.17352/2455-1414.000049 |z Connect to this object online. |