METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF CYSTIC FIBROSIS Russian patent published in 2022 - IPC C12Q1/68 G01N33/53 

FIELD: biotechnology.

SUBSTANCE: described is a method for prei-mplantation genetic testing of cystic fibrosis, involving the detection of inheritance of pathogenic variants NC_000007.13:g.l 17199646-117199648delCTT NM_000492.3: c. 1521-1523delCTT, NP_000483.3:p.Phe508del, rsl 13993960, delF508, NC_000007.13:g.117282620G>A NM_000492.3:c.3846G>A, p.Trpl282Ter, rs77010898 in the CFTR gene, including a dual detection system: direct and indirect; wherein direct detection is executed by means of primers: SEQ ID No. 1-69, and indirect detection is executed by means of primers for the analysis of inheritance of molecular genetic polymorphic markers of the (STR) type, linked to the pathogenic variant, selected from SEQ ID No. 1-69; wherein primers targeting the STR the alleles whereof are different on all parent chromosomes are used; wherein the external primers are marked as Fout (direct primer) and Rout (reverse primer), and the internal primers are marked as Fin (direct primer) and Rin (reverse primer); diagnostics are therein performed in two stages of semi-nested PCR: at the first stage, multiplex PCR is performed with external primers for STR and the CFTR gene; at the second stage, individual PCR of each fragment is performed with internal primers for STR, as well as by the PCR-RFLP method in order to determine the pathogenic variant of the CFTR gene.

EFFECT: invention increases the duration of pre-implantation genetic testing of the cystic fibrosis disease in families at high risk of developing said disease in future children.

1 cl, 1 ex