Usage of U7 snRNA in gene therapy of hemoglobinE disorder, an in silico study

摘要

Hemoglobin (Hb) E disorder is an important hemoglobinopathy with the highest endemicity in Southeast Asia. People with hemoglobin E disease have a mild hemolytic anemia and mild splenomegaly. The microcytosis is attributed to the beta thalassemic nature of the beta E (βE) globin gene, whereas the in vitro instability of HbE does not contribute to the phenotype. Here, the author performs a bioinformatic analysis to study the effect of nucleic acid sequence change due to SnRNA repair in the hemoglobin E disorder on the secondary structure of beta globin chain. Answering this question, a computer-based study for amino acid sequence comparison and protein structure modeling is performed. The database Pubmed was used for data mining of the nucleic acid sequence for human beta globin chain. Then the mutation beta 26, GAG-AAG, was experimentally performed to derive primary sequence in Hb E disorder. Then modified U7 snRNA (U7.623) was experimentally direct inserted, as previously described, into the sequence. According to this study, the secondary structure of human beta globin chains of normal and SnRNA repaired Hb E are calculated and presented. According to this study, there is no significant difference in the secondary structures between both chains. Here, the author can reassure that modified U7 snRNA might be a good future tool for gene therapy in Hb E disorder.