Gene mutation in patients with primary open-angle glaucoma in a pedigree in China

Objective To investigate the genetic basis of the pathogenesis of a Guangzh ou (GZ. 1) pedigree with primary open-angle glaucoma (POAG). Methods DNA fragments of the trabecular meshwork inducible glucocorticoid r esponse protein (TIGR) gene from 4 typical POAG patients and 2 normal subje cts were amplified by polymerase chain reaction (PCR). The amplified PCR fr agment was cloned into a pT-Adv vector, and direct sequencing was carried o ut on an ABI-373 automated DNA sequencer using dye-terminator chemistry to detect the mutation. Results The TIGR gene mutation was identified in the selected subjects of t his pedigree. This mutation is a "C-to-T" transition at position 370, diffe rent from that of western countries and equivalent to the position change f ound in Japanese patients with familial POAG. No mutation was found in the TIGR gene fragment in 2 normal subjects of the pedigree. Conclusions These preliminary results provide insights into the pathogenesi s of POAG by the TIGR gene mutation, and into the underlying action of the different mutations in oriental and western peoples.