Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

ABSTRACT:

Purpose

To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG).

Methods

One family was examined clinically and a follow-up took place 5 years later. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed with three microsatellite markers around the MYOC gene (D1S196, D1S2815, and D1S218) in the family. Mutation screening of all coding exons of MYOC was performed by direct sequencing of PCR-amplified DNA fragments and restriction fragment length polymorphism (RFLP) analysis. Bioinformatics analysis by the Garnier-Osguthorpe-Robson (GOR) method predicted the effects of variants detected on secondary structures of the MYOC protein.

Res

SUBMITTER: Zhao X 

PROVIDER: S-EPMC2927375 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature