PREIMPLANTATION METHOD OF MARTINE-BELL SYNDROME GENETIC TESTING Russian patent published in 2023 - IPC C12Q1/00 C12Q1/68 C12Q1/6876 C12Q1/6883 

FIELD: preimplantation genetic testing (PGT) of monogenic diseases.

SUBSTANCE: preimplantation genetic testing method of Martine-Bell syndrome has been described. The method involves detection of the inheritance of the expansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1 gene which includes a double detection system — direct and indirect. Direct detection is carried out using amplification primers, the sequences of which are indicated in the formula. 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 1-50.

EFFECT: creation of a test system for diagnosing a pathogenic variant — the expansion of the CGG trinucleotide repeat in 5'-untranslated region of the FMR1 gene with a dual detection system — direct and indirect.

1 cl, 2 tbl, 1 ex