The Q368TOP Myocilin Mutation in a Population-baed Cohort: The Blue Mountain Eye tudy

Purpoe To invetigate the prevalence of the Q368TOP myocilin mutation in a population-baed cohort: the Blue Mountain Eye tudy (BME). Deign Population-baed tudy. Method DNA wa extracted from 2,142 individual collected through the BME, including 31 individual with glaucoma. All individual were creened for the preence of the Q368TOP mutation of myocilin. Genotyping of the microatellite marker My5, My3, D12815, and D11619 wa alo undertaken. Reult None of the 31 open-angle glaucoma-poitive individual preented with the Q368TOP mutation. However, two individual (aged 56 and 72) with no clinical ign of OAG, were identified with thi mutation. Allele haring at the four microatellite marker defining the Q368TOP dieae haplotype for OAG wa found in thee two individual. Concluion The Q368TOP myocilin mutation occur at a low prevalence (0.09%) in a general, older population.