Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients

We investigated the coding exon and promoter sequence in the trabecular mes hwork-inducible stretch response (TISR)/oculomedin gene for mutations in Ch inese primary open angle glaucoma (POAG) subjects. The entire TISR/oculomed in coding sequence, together with 138 bp of promoter sequence 5' to the sta rt codon and 170 bp of the 3' untranslated region in 110 Chinese POAG patie nts and 108 unrelated control subjects without glaucoma, aged 50 years or a bove, were screened for alterations by DNA sequencing. One heterozygous seq uence alteration, K28E, was identified in one control subject, and two homo zygous sequence alterations, K28K and 135+36delC, were universally found in every sample. As a result, no common TISR/oculomedin coding sequence nor a ny proximal promoter mutation that causes POAG was found. The effect of TIS R/oculomedin in glaucoma has yet to be established.