Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

ABSTRACT:

Purpose

To examine the possible role of alternate splicing leading to aggregation of myocilin in primary open-angle glaucoma.

Methods

Several single nucleotide variations found in the myocilin (MYOC) genomic region were collected and examined for their possible role in causing splice-site alterations. A model for myocilin built using a knowledge-based consensus method was used to map the altered protein products. A total of 150 open-angle glaucoma patients and 50 normal age-matched control subjects were screened for the predicted polymorphisms, and clustering was performed.

Results

A total of 124 genomic variations were screened, and six polymorphisms that lead to altered protein products were detected as possible candidates for the alternative splicing mechanism. Fiv

SUBMITTER: Pandaranayaka PJ 

PROVIDER: S-EPMC3013065 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature