METHOD FOR DIFFERENTIAL AND CONFIRMING MOLECULAR GENETIC DIAGNOSIS OF SENSORINEURAL HEARING LOSS IN A POPULATION OF CHUVASH Russian patent published in 2022 - IPC C12Q1/68 G01N33/50 

Abstract RU 2768033 C1

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology, namely to medical genetics, and can be used in medical genetics and otorhinolaryngology for diagnosing hereditary nonsyndromic hearing loss (HNHL) in the population of Chuvash. Proposed method involves a polymerase chain reaction method with subsequent analysis of polymorphism of lengths of restriction fragments (PCR-RFLP) using primers flanking the nucleotide sequence variant locus NM_133261.2(GIPC3):c.245A>G: F-TCTCCACCTGCTGGAAGTCT, R-CCTCGATCCGGTTGATGAT, and restriction endonucleases BstDEI.

EFFECT: proposed method allows high-accuracy confirmation of HNHL caused by variant NM_133261.3(GIPC3):c.245A>G, and at the same time accelerates and reduces the cost of the process of molecular genetic diagnosis of HNHL for the population of Chuvash.

1 cl, 3 dwg, 3 tbl, 3 ex

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RU 2 768 033 C1

Authors

Zinchenko Rena Abulfazovna

Petrova Nika Valentinovna

Balinova Natalya Valerevna

Konovalov Fedor Andreevich

Marakhonov Andrej Vladimirovich

Vasileva Tatyana Alekseevna

Abrukova Anna Viktorovna

Kadyshev Vitalij Viktorovich

Kutsev Sergej Ivanovich

Dates

2022-03-23Published

2021-07-27Filed