Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.

ABSTRACT:

Background

Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome 1q-linked open-angle glaucoma (GLC1A) in a Chinese family with primary open-angle glaucoma (POAG).

Methods

A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations.

Results

Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean a

SUBMITTER: Liao RF 

PROVIDER: S-EPMC5146788 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature