CHẨN ĐOÁN DI TRUYỀN TIỀN LÀM TỔ BỆNH THIẾU MEN GLUCOSE-6-PHOSPHATASE DEHYDROGENASE (G6PD)

Abstract

With an estimated 500 million cases globally, glucose-6-phosphatase dehydrogenase deficiency (OMIM 305900) is the most prevalent hereditary enzyme deficiency disorder. This X-linked recessive inheritance results from mutations in the G6PD gene (Xq28) encoding the enzyme glucose-6-phosphatase dehydrogenase, which catalyzes the first reaction in the pentose phosphate cycle and produces NADPH. This substance is crucial for defending the sulphydryl of hemoglobin and the membranes of red blood cells from oxidizing agents. The risk of hemolysis in those affected increases when exposed to oxidizing substances. Disease prevention is now achievable in Vietnam due to the preimplantation genetic diagnostic technique, which enables couples carrying the mutation to have healthy offspring. Objectives: To develop the technique preimplantation genetic diagnosis of glucose-6-phosphatase dehydrogenase deficiency. Materials and methods: Sanger sequencing was performed to detect the mutation in the blood samples of the couple, their daughter, and 05 embryos that were biopsied on the fifth day based on the findings of NGS sequencing of the affected son, combined conducting linkage genetic analysis using STR to provide diagnostic results and thereby completing the technique. Results: Preimplantation genetic diagnosis for glucose-6-phosphatase dehydrogenase deficiency has been completed, and we performed the method for a couple who had previously had a child with the enzyme defect.  Consequently, one healthy embryo, three embryos with the variant G6PD: c.1376G>T (G6PD: p.Arg459Leu), and one affected embryo.