PREIMPLANTATION GENETIC TESTING METHOD FOR ACHONDROPLASIA Russian patent published in 2023 - IPC C12Q1/6806 C12Q1/6876 

FIELD: medicine.

SUBSTANCE: invention relates to a method for diagnosing hemophilia A monogenic disease under conditions of preimplantation genetic testing (PGT). A test system has been developed for diagnosing the pathogenic variant NC_000023.10:g.154221234C>T (NM_000132.3:c.578G>A, p.Gly193Glu), in the F8 gene for use in the framework of PGT of hemophilia A monogenic disease with the possibility of direct and indirect diagnostics. 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 F8 gene using indirect detection. Using the developed test system, preimplantation genetic testing of hemophilia A for families with a high risk of developing this disease in future children was carried out.

1 cl, 1 dwg, 2 tbl, 1 ex