Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Oct;25(5):493-6.

[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma]

[Article in Chinese]
Xiaohua Dai  1 , Shangwu Nie, Tie Ke, Jianping Liu, Qing Wang, Mugen Liu
Affiliations
  • PMID: 18841557

[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma]

[Article in Chinese]
Xiaohua Dai et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct.

Abstract

Objective: To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).

Methods: Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.

Results: The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals.

Conclusion: Author identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.

PubMed Disclaimer

Publication types

Substances

LinkOut - more resources