PREIMPLANTATION GENETIC TESTING METHOD FOR BLEPHAROPHIMOSIS, PTOSIS AND EPICANTHUS REVERSAL SYNDROME TYPE 1,2 Russian patent published in 2023 - IPC C12N15/00 C12Q1/68 

FIELD: diagnostics.

SUBSTANCE: invention relates to a method for diagnosing the monogenic disease blepharophimosis, ptosis and epicanthus reversal syndrome, type 1, 2 under conditions of preimplantation genetic testing (PGT). The method involves detection of the inheritance of the pathogenic variant NC_000003.11:g.138665511_138665512del(NM_023067.4:c.53_54del, p.Prol8fs) in the FOXL2 gene and includes a double detection system — direct and indirect. Direct detection is carried out using amplification primers, and indirect detection is carried out 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 directed to those STRs whose alleles are different on the chromosomes of the parent-carrier of the mutation are used. Diagnosis is carried out in two stages of semi-nested PCR: at the first stage, multiplex PCR is performed with external primers, at the second stage, individual PCR of each fragment is performed with internal primers for STR.

EFFECT: method has high specificity and efficiency, and is also universal in relation to biosamples of various types.

1 cl, 2 tbl, 1 ex