METHOD FOR DETECTING p.Q368X MYOCILIN (MYOC) GENE MUTATION CAUSING PRIMARY OPEN-ANGLE GLAUCOMA Russian patent published in 2016 - IPC G01N33/50 C12Q1/68 

Abstract RU 2582956 C2

FIELD: medicine.

SUBSTANCE: invention refers to medicine. Presented is a method for detecting p.Q368X (c.1102C>T) 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

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RU 2 582 956 C2

Authors

Dzhemileva Lilja Useinovna

Lobov Semen Leonidovich

Zajnitova Alija Rifovna

Zagidullina Ajgul Shamilevna

Sattarova Rima Razjapovna

Khusainova Rita Igorevna

Akhmetova Vita Leonovna

Khidijatova Irina Mikhajlovna

Karunas Aleksandra Stanislavovna

Khusnutdinova Elza Kamilevna

Dates

2016-04-27Published

2014-02-27Filed