TỈ LỆ CÁC ĐỘT BIẾN Ở GEN COL1A1/COL1A2 TRONG BỆNH TẠO XƯƠNG BẤT TOÀN

Abstract

Background: This study investigated the prevalence of mutations in the COL1A1/COL1A2 gene in people with osteogenesis imperfecta - a rare and poorly studied genetic disease. Method: Retrospective review of medical records and genetic analysis results of people with confirmed diagnosis of osteogenesis imperfecta according to records archived at Center for gene protein research, Hanoi Medical University, from 2014-2024. Results: The rate of COL1A1/COL1A2 gene mutations is 84.5%, mainly in the COL1A1 gene. Mutations occurring in the intron region account for the majority. For exon mutations, the majority are missense mutations, deletion mutations, and nonsense mutations, accounting for a low rate. In patients with osteogenesis imperfecta, 41/42 cases carry genetic mutations inherited from their parents. Conclusion: The rate of COL1A1/ COL1A2 gene mutations in the study is consistent with previous reports. The study results provide a genetic database of gene mutations causing osteogenesis imperfecta, useful for clinical diagnosis and genetic counseling.