Phát hiện đột biến gen Perforin gây hội chứng thực bào máu ở trẻ em bằng kỹ thuật giải trình tự chuỗi DNA

Hemophagocytic lymphohistiocytosis, also known as hemophagocytic syndrome, in early childhood are commonly caused by gene mutations. However, molecular diagnosis is still lacking in Vietnam. In this study, by using DNA sequencing technique, the authors analyzed perforin mutations in 21 pediatric patients with hemophagocytic lymphohistiocytosis in Ho Chi Minh city. The authors detected only one novel mutation c.1153CT (R385W) in an 8 month-old patient. Single nucleotide polymorphisms including c.630CT (P210P), c.822CT (A274A), and c.900CT (H300H) were found in all patients. Other related genes mutated in hemophagocytic lymphohistiocytosis need to be investigated in Vietnamese patients.