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Glaucoma-inducing DNA mutations similar in Indian, Western populations

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In the Indian population in Asia, the frequency of a gene mutation commonly thought to be related to primary open-angle glaucoma onset is 2%, similar to rates seen in studies of Western populations. Janakaraj Kanagavalli and colleagues at the Aravind Medical Research Foundation in India say they have now mapped a possible mutations model for myocilin that can be used for other ethnicities not well studied.

The study authors analyzed DNA for mutations in 107 patients identified with primary open-angle glaucoma (POAG) and in 90 normal control subjects. Specifically, the researchers looked at the MYOC gene and sequenced the DNA samples that showed mobility shift in the banding pattern in the single strand conformation polymorphism gel.

Two mutations were identified on the MYOC gene in the patients with POAG that were not present in normal subjects. One common mutation, Gln368Stop, was not found in this Indian subset, but is often linked in Western populations. For this population, myocilin mutations tend to be found on the C-terminal region.

The study is published in the November issue of Molecular Vision.