Evaluation of the <Emphasis Type="Italic">OPTC</Emphasis> gene in primary open angle glaucoma: functional significance of a silent change |
| |
| Authors: | Moulinath Acharya Suddhasil Mookherjee Ashima Bhattacharjee Sanjay KD Thakur Arun K Bandyopadhyay Abhijit Sen Subhabrata Chakrabarti Kunal Ray |
| |
| Institution: | (1) Molecular & Human Genetics Division, Indian Institute of Chemical Biology, Kolkata, India;(2) Regional Institute of Ophthalmology, Medical College, Kolkata, India;(3) Dristi Pradip, Jodhpur Park, Kolkata, India;(4) LV Prasad Eye Institute, Hyderabad, India |
| |
| Abstract: | Background We investigated the molecular basis of primary open-angle glaucoma (POAG) using Opticin (OPTC) as a candidate gene on the basis of its expression in the trabecular meshwork cells involved in the disease pathogenesis.
Two hundred POAG patients and 100 controls were enrolled in this study. The coding sequence of OPTC was amplified by PCR from genomic DNA of POAG patients, followed by SSCP, DHPLC and DNA sequencing. Subsequent bioinformatic
analysis, site-directed mutagenesis, quantitative RT-PCR and western blot experiments were performed to address the functional
significance of a 'silent' change in the OPTC coding region while screening for mutations in POAG patients. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
