METHOD OF PREIMPLANTATION GENETIC TESTING OF FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY Russian patent published in 2023 - IPC C12N1/00 C12Q1/68 

FIELD: medical genetics.

SUBSTANCE: method of preimplantation genetic testing of facioscapulohumeral muscular dystrophy is described. The following is detected: inheritance of a pathogenic variant, i.e. a decrease in the number of repeats in the D4Z4 locus in the DUX4 gene, with a dual detection system - direct detection of the presence of the permissive 4qA haplotype and indirect detection of an inherited pathogenic variant from a parent with the disease. Direct detection of the presence of the permissive 4qA haplotype is carried out using primers for amplification: forward GGTGGAGTTCTGGTTTCAGC-(HEX) and reverse CCTGTGCTTCAGAGGCATTTG. Indirect detection is performed using primers for the analysis of the inheritance of molecular genetic markers of the STR type linked to the pathogenic variant selected from SEQ ID NO: 1-39. Primers aimed at those STRs whose alleles are different on the chromosomes of the parents are used, and the diagnostics is performed in two stages of semi-nested PCR: at the first stage, multiplex PCR is carried out with external primers, at the second stage, individual PCR of each fragment is carried out with internal primers for STR, as well as PCR is performed in 2 rounds for direct detection of the presence of the permissive 4qA haplotype.

EFFECT: invention expands the arsenal of means for preimplantation genetic testing of facioscapulohumeral muscular dystrophy.

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