METHOD FOR DETECTING p.Q368X MYOCILIN (MYOC) GENE MUTATION CAUSING PRIMARY OPEN-ANGLE GLAUCOMA

摘要

FIELD: medicine.;SUBSTANCE: invention refers to medicine. Presented is a method for detecting p.Q368X (c.1102CT) MYOC gene mutation accompanied by a congenital form of primary open-angle glaucoma (POAG). The DNA is recovered from peripheral blood lymphocytes by phenol-chloroform extraction, and a real-time polymerase chain reaction is performed and followed by determining an end-point maximum melting curve. The MYOC gene region is amplified in the presence of two oligonucleotide sequences with EvaGreen dye.;EFFECT: invention provides the effective diagnosis of POAG in patients of hereditary tainted families.;1 dwg, 2 tbl, 2 ex