Purpose: To investigate the mutations of MYOC gene in two family pedigrees with primary open-angle glaucoma(POAG) in Shanxi.
Methods: Two POAG pedigrees in Shanxi were recruited and underwent complete ophthalmic examination. Genomic DNA was extracted from the peripheral blood of patients, of relatives and of normal controls. The coding sequence of MYOC gene was amplified by PCR with 7 pairs of primers. The PCR products were sequenced to screen for mutation sites.
Result: In Pedigree 1, no MYOC mutations were observed. One missense MYOC mutation, Ser341Pro, was identified in Pedigree 2, but there was no mutation presented in unaffected relatives and normal controls.
Conclusion: MYOC Ser341Pro mutation may be account for the POAG in the Pedigree 2.