METHOD OF PREIMPLANTATION GENETIC DIAGNOSIS OF FANCONI ANEMIA Russian patent published in 2019 - IPC G01N33/50 C12Q1/6876 

FIELD: medicine.

SUBSTANCE: invention relates to medicine. Disclosed is a method of preimplantation genetic diagnosis of Fanconi anemia in an embryo, which involves detection of mutations c.731T> A (p.L244X), c.1844dupC and deletion of 1–3 exons of the FANCA gene by direct and indirect diagnosis. Direct diagnostics involves determination of point mutation c.731T> A (p.L244X) and mutation c.1844dupC by PCR-RFLP method, and indirect diagnosis for deletion of 1–3 exon of FANCA gene involves semi-nested PCR for analysis of inheritance of molecular-genetic markers linked with a mutation. If observing mutations c.731T> A (p.L244X), c.1844dupC or deletion of 1–3 exon of FANCA gene, Fanconi anemia is diagnosed in an embryo.

EFFECT: invention provides effective preimplantation genetic diagnosis of Fanconi anemia, providing for detection of mutations c.731T> A (p.L244X), c.1844dupC and deletion of 1–3 FANCA gene exon by direct and indirect diagnosis.

1 cl, 2 ex