Tạo thư viện chứng dương cho xét nghiệm sinh học phân tử chẩn đoán bệnh Beta Thalassemia

Abstract

Beta thalassemia is an inherited blood deficit disease caused by genetic disorders in beta-globin gene. It leads to severe health problems for infected individuals as well as the society. Early detection of genetic carriers is done by molecular analysis techniques that compare blood sample with positive control extracted from people with the rare genetic mutations. However, one drawback is the lack of homogeneity in quality and source of positive control, especially of rare mutations. The objective of this study was to create a genetic library of positive control of 8 mutations of HBB gene. A total of 1456 patients diagnosed with beta thalassemia were screened and tested for genetic carriers. Detected genes were inserted into E. coli cells with DH5α strain for expansion to create positive control library. By using recombinant DNA technology using the available DNA of beta thalassemia positive patients, the study has created a positive control library for 8 mutations of HBB gene including: CD17, CD41/42, CD26, CD71/72, CD95, -28, IVS 1.1 and IVS 1.5.