DIAGNOSTIC TECHNIQUE FOR THE 167DELT (RS80338942) MUTATION OF THE GJB2 GENE Russian patent published in 2020 - IPC C12Q1/68 

Abstract RU 2739943 C1

FIELD: biotechnology.

SUBSTANCE: invention refers to biotechnology, namely to molecular biology, medical genetics and otorhinolaryngology. Disclosed are synthetic oligonucleotides for diagnosing (genotyping) of 167delT (rs80338942) mutation of GJB2 gene in human biomaterial. Primers and probes are combined into DNA detection kits in human biomaterial by polymerase chain reaction.

EFFECT: invention enables highly sensitive diagnosis of congenital hereditary deafness in biological material; using this method provides also highly sensitive and objective description of human genotype with determination of homozygous and heterozygous carriage of this mutation.

1 cl, 2 dwg, 2 tbl

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RU 2 739 943 C1

Authors

Lolomadze Elena Anatolevna

Rebrikov Denis Vladimirovich

Dates

2020-12-30Published

2020-04-22Filed