This invention relates to a
gene encoding
coagulation factor IX. F9 This study investigates animal models of nonsense mutations, methods for screening hemophilia drugs using these models, and the application of the screened stRNAs in the preparation of hemophilia drugs. Based on an analysis of the probability of nonsense mutations in
coagulation factor IX in hemophilia patients, the study verifies that stRNAs can read the
coagulation factor IX encoding
gene. F9 The function and efficiency of the premature termination codon (PTC) were investigated. Seven Arg-stRNAs were designed to target the coagulation
factor IX R75*
mutation, and readthrough efficiency was tested at the
cellular level. A mouse model of the coagulation
factor IX R75*
mutation was constructed, and Arg-stRNA was delivered via AAV, restoring the expression of endogenous coagulation
factor IX and reducing
clotting time, demonstrating the effectiveness of stRNA in treating hemophilia B.