Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.

ABSTRACT:

Purpose

To investigate sequence variants in the optineurin (OPTN) gene in patients with juvenile-onset open-angle glaucoma (JOAG) in Taiwan.

Methods

We analyzed the sequence variants of OPTN in 51 unrelated Taiwanese probands with JOAG and in 51 control group subjects who did not have JOAG. Genomic DNA was extracted from the individuals and subjected to polymerase chain reaction (PCR) to amplify all 16 exons and flanking introns of OPTN. The amplified products were then screened for base variants by autosequence. Data from the two study groups were then compared using Fisher's exact test and Armitage's trend test.

Results

Fifteen variants of OPTN were found in the 51 JOAG patients and 51 unrelated normal controls. Two were missense variants (M98K and K322E), one was a

SUBMITTER: Yen YC 

PROVIDER: S-EPMC2268851 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature