XÉT NGHIỆM DI TRUYỀN TRƯỚC LÀM TỔ BỆNH HEMOPHILIA B BẰNG PHÂN TÍCH CÁC STR LIÊN KẾT GEN F9

Abstract

Background: Hemophilia B is an X-linked inherited bleeding disorder caused by mutations in the F9 gene, with no curative treatment currently available. Preimplantation genetic testing for monogenic disorders (PGT-M) is an effective approach to prevent transmission of the pathogenic variant to the next generation. Objective: To identify F9 pathogenic variants in preimplantation embryos from three carrier families using STR analysis. Materials and Methods: A case-series study was conducted on peripheral blood samples and biopsied embryos after IVF from three families carrying F9 variants c.880C>T and c.676C>T. Techniques applied included PGT-M, multiplex PCR, capillary electrophoresis, STR-based linkage analysis, and Sanger sequencing. Results: The F9 linkage maps of the three families were successfully established, and eight embryo samples were analyzed to determine the presence of the pathogenic F9 variants causing Hemophilia B. Conclusion: The pathogenic F9 variants in embryos were accurately identified using STR-based linkage analysis in PGT-M for Hemophilia B.