FIELD: biotechnology.
SUBSTANCE: described is a method for diagnosing the monogenic disease Louis-Bar syndrome in settings of pre-implantation genetic testing (PGT). For this purpose, pathogenic variants NC_000011.9:g.chr11:108198481delA (NM_000051:c.7085delA, p.Lys2363ArgFS*3) are diagnosed in the ATM gene.
EFFECT: high specificity and effectiveness were revealed within the framework of the method, as well as versatility with respect to various biological samples: single cells, product of genome-wide amplification, total DNA isolated from different tissues; the developed test system was used to conduct pre-implantation genetic testing of Louis-Bar syndrome in families at high risk of developing said disease in future children.
1 cl, 1 ex
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