Đột biến gen Col1A1 ở bệnh nhi tạo xương bất toàn

Osteogenesis imperfecta is an autosomal dominant desease. Most of mutations will change the triple form Gly-X-Y which could harm a Collagene I structure. Moreover, some mutation on introns may be also a cause of the Collagene I disorder. 15 patients were diagnosed as Osteogenesis imperfecta type IV based on clinical information and family history. DNA samples were extracted from fresh blood. Direct sequencing was ferformed to identify the mutation in COL 1A1 gene. The results indicated that 11/15 Osteogenesis imperfecta patients were found to have the point mutation in COL 1A1 gene.