Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.

ABSTRACT:

Purpose

To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG).

Methods

The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects carried mutations in CYP1B1, but the remaining 20 patients who did not, underwent screening for MYOC mutations for the purpose of the study. MYOC exons in the DNA were polymerase chain reaction (PCR) amplified and sequenced. Sequencing was performed using PCR primers, the ABI big dye chemistry and an ABI3730XL instrument. Sequences were analyzed by comparing them to reference MYOC sequences using the Sequencher software.

Results

Four MYOC sequence variations were observed among

SUBMITTER: Elahi E 

PROVIDER: S-EPMC3380681 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature