Open AccessPrediction of RNA Secondary Structure at IVS1 Mutation of Beta Globin Gene
Author(s) -
Nur Imaniati Sumantri,
Dian Rachma Wijayanti
Publication year - 2020
Publication title -
international journal of chemtech research
Language(s) - English
Resource type - Journals
eISSN - 2455-9555
pISSN - 0974-4290
DOI - 10.20902/ijctr.2019.130131
Subject(s) - beta (programming language) , mutation , globin , gene , genetics , biology , beta thalassemia , mutant , rna , protein secondary structure , gene mutation , thalassemia , microbiology and biotechnology , biochemistry , computer science , programming language
Background: Beta globin gene is responsible for producing beta globin chains thatstabilize the structure and function of hemoglobin. This gene expression is controlled bycomplex interactions of transcriptions factors and its regulatory elements in a specific manner.Disturbed beta globin genes may result in hemoglobinopathies, mainly sickle cell disease andbeta thalassemia. It seems interesting that several mutations occurring in intronic regionresults in severe symptoms to beta thalassemia patients, such an IVS1nt5 G>C. This researchaimed to analyze RNA structural alteration effected by intronic mutation of beta thalassemia.Methods: The most prevalent mutation of beta thalassemia in Indonesia was obtained fromIthanet. The RNA secondary structure of IVS1nt5 G>C and beta globin gen (HBB) wildtypewere performed by RNAStructure, along with probknot prediction. Results: The resultshowed that intronic mutation caused conformational change in beta globin secondarystructure, either for max expect or base pairing probability approach. The mutant had biggerand more loops that diminished the protein stability. Thus, the structure might undergodysfunction. Conclusion: The comprehensive structural-functional significance of thesefindings needs further study.