In our study, we analyzed 30 unrelated OI patients for the COL1A1,COL1A2, P3H1, CRTAP, PPIB,SERPINH1, SERPINF1, FKBP10, SP7,WNT1 and IFITM5 genes through SSCP screening, NGS genepanel and Sanger sequencing. The gene discussed is COL1A2; the disease is osteogenesis imperfecta.