Evaluation of single nucleotide mutation in exon 1 of myoc gene in patients with primary congenital glaucoma

Introduction & Objectives: Vision is the most vital human feeling and glaucoma is one of the most important causes of blindness in the world and Iran. In glaucoma, progressive and persistent destruction of the optic nerve axons occurs due to non-genetic and genetic reasons, including a mutation in the myoc gene encoding the myocilin protein. The purpose of this study was to determine the presence of a point mutation in exon 1 of myoc gene.Materials & Methods: In this study, 30 families with PCG were sampled after obtaining the approval of a medical and genetic counselor, obtaining a consent, and observing a patients' rights convention. Also 100 control samples were used in the study. Arms-PCR was performed by Pfu enzyme with specific primer exon 1. Data were analyzed by Chromass and then Mega 6 programs at the significant level P˂0.05.Results: The results showed that G> A mutation was significant at position 227 of exon 1, which converts AAA to AGA code, so arginine replaces lysine.Conclusion: The presence of this gene, although not the cause of PCG alone, can be effective in improving clinical investigations and the effective gene network in PCG. By studying the changes in ocular pressure and the presence of mutations in different exons of this gene, the complete relationship between these two factors can be plotted.

کلیدواژه ها:

Glaucoma ، myoc gene ، Arms-PCR ، single nucleotide mutation