METHOD FOR DIFFERENTIAL AND CONFIRMING MOLECULAR GENETIC DIAGNOSIS OF SENSORINEURAL HEARING LOSS IN A POPULATION OF CHUVASH

摘要

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