Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

ABSTRACT:

Purpose

To investigate the genetic linkage of primary open-angle glaucoma (POAG) in a Chinese family.

Methods

We have screened for myocilin (MYOC) gene mutations in a glaucoma family of five generations. There are fifty-six members of whom 11 were confirmed to have POAG , two with ocular hypertension were considered as POAG suspect, and the remaining 43 were asymptomatic. We also recruited 200 unrelated healthy Chinese subjects as normal control. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to identify mutations in the three exons of MYOC. Presymptomatic diagnoses were made for the family members seeking consultation based on the results of both clinical examination and genetic analysis.

Results

Am

SUBMITTER: Xie X 

PROVIDER: S-EPMC2530518 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature