METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF HUNTINGTON'S DISEASE Russian patent published in 2025 - IPC C12Q1/6806 

FIELD: biotechnologies.

SUBSTANCE: described is a method for pre-implatation genetic testing of Huntington's disease, providing for the detection of the inheritance of a pathogenic variant of expansion of CAG repeat in the HTT gene, including a double detection system – direct and indirect, where direct detection is carried out using primers for amplification selected from SEQ ID NO 74-77, and indirect detection is carried out using primers for analysis of molecular genetic markers of type STR, linked to pathogenic variant, selected from SEQ ID NO 1-73, wherein primers are used, directed to those STR, which alleles are different on the chromosomes of the parent-carrier of the mutation, where external primers are designated as Fout – forward primer and Rout – reverse primer, and internal primers are denoted as Fin – forward primer and Rin – reverse primer, wherein diagnosis is carried out in two stages of semi-nested PCR: first step includes multiplex PCR with external primers, second step includes individual PCR of each fragment with internal primers for STR, simple PCR and fragment analysis are also carried out to determine the pathogenic variant in the HTT gene. Invention has shown high specificity and efficacy, as well as versatility with respect to biosamples of various types: single cells, genome-wide amplification products, total DNA recovered from various tissues.

EFFECT: invention can be used not only for detection of a specific pathogenic variant, but also for any other pathogenic variant or several pathogenic variants in HTT gene by indirect detection.

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