METHOD FOR PREIMPLANTATION GENETIC TESTING OF TYPE 4 OSTEOPETROSIS Russian patent published in 2023 - IPC C12Q1/68 C12N15/00 

FIELD: biotechnology.

SUBSTANCE: method for diagnosing osteopetrosis, monogenic disease, type 4, under conditions of preimplantation genetic testing (PGT) is described. A test system has been developed for the diagnosis of pathogenic variants NC_000016.9:g.1499058A>T (NM_001287.5:c.1706T>A, p.Ile569Asn) and NC_000016.9:g.1510924C>T (NM_001287.5:c.377G>A, p.Arg126His0) in CLCN7 gene for use in the PGT of osteopetrosis, monogenic disease, type 4, with the possibility of direct and indirect diagnosis. The method has high specificity and efficiency, as well as versatility in relation to biosamples of various types: single cells, the product of whole genome amplification, total DNA isolated from different tissues.

EFFECT: 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 CLCN7 gene using indirect detection.

1 cl, 2 dwg, 2 tbl, 1 ex