[To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma]

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Context:

• Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness globally.
• The trabecular meshwork induced glucocorticoid response protein (TIGR) gene has been implicated in POAG pathogenesis.
• Genetic variations may contribute to differing POAG prevalence and mechanisms across diverse populations.

Purpose:

• To investigate the presence and frequency of TIGR gene mutations in Chinese patients diagnosed with POAG.
• To compare the mutation rate in Chinese POAG patients with findings reported in international studies.

Summary:

• The study analyzed the TIGR gene in 70 Chinese POAG patients and 20 controls using polymerase chain reaction (PCR), single-stranded conformation polymorphism (SSCP), and DNA sequencing.
• A TIGR gene mutation (Asp 338 Asn) was identified in one POAG patient, resulting in a mutation detection rate of 1.4% (1/70).
• No TIGR gene mutations were found in the control group, and one patient's sample showed no sequence alterations.

Impact:

• The findings suggest a potential association between TIGR gene mutations and POAG in the Chinese population.
• The lower mutation rate observed in Chinese patients compared to foreigners indicates that POAG pathogenesis may vary significantly across different ethnic groups and geographical regions.
• This highlights the need for further research into regional and racial disparities in the genetic mechanisms underlying POAG.