FIELD: biotechnology.
SUBSTANCE: described is a method for diagnosing the monogenic disease epidermolysis bullosa in settings of pre-implantation genetic testing (PGT). For this purpose, the pathogenic variants of g.48592390-48592384delGGTGCCA are diagnosed in the COL7A1 gene for use within the PGT of the monogenic disease epidermolysis bullosa with the possibility of direct and indirect diagnosis. 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.
1 cl, 1 ex
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