FIELD: biotechnology.
SUBSTANCE: method for diagnosing a monogenic disease, non-syndromic sensorineural hearing loss, under conditions of preimplantation genetic testing (PGT) is described. Diagnostics of pathogenic variants NC_000013.10:g.20763691del (NM_004004.6:c.35delG, p.Gly12fs) and NC_000013.10:g.20763554del (NM_004004.6:c.167del, p.Leu56fs) in the GJB2 gene is carried out for use within the framework of PGT of a monogenic disease, non-syndromic neurosensory hearing loss using direct and indirect diagnostics. The method has high specificity and efficiency, as well as versatility in relation to bio-samples of various types: single cells, the product of whole genome amplification, total DNA isolated from different tissues.
EFFECT: in this case, the method can be used not only for the detection of a specific pathogenic variant, but also for any other pathogenic variant or several in the GJB2 gene using indirect detection.
1 cl, 1 tbl, 1 ex
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