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Title: Molecular diagnosis and mutation characterization in thalassemias
Authors: WANG WEN
Keywords: Thalassemia, minisequencing, alpha-globin gene triplication, hemoglobin H disease, premature termination codon, nonsense-mediated mRNA decay
Issue Date: 30-May-2005
Citation: WANG WEN (2005-05-30). Molecular diagnosis and mutation characterization in thalassemias. ScholarBank@NUS Repository.
Abstract: Thalassemia, the commonest monogenetic disorder in humans, has historically constituted a serious public health problem in all tropical and sub-tropical regions of the world. In this study, improved simple and rapid molecular diagnostic assays were developed for the detection of common alpha- and beta-thalassemia mutations and alpha-globin gene triplications. Alpha-thalassemia mutations in Hb H disease patients were also characterized. With the combination of all these molecular tools, it is possible to rapidly, efficiently and cost-effectively detect all the common alpha- and beta-thalassemia mutations in Southeast Asia. In addition, several beta-thalassemia mutations which result in premature termination codons (PTCs) were studied at the mRNA and protein level to characterize the relationship between position of the mutation and nonsense-mediated mRNA decay (NMD). The results suggest the presence of a 5a?? boundary upstream of which the presence of PTC does not lead to NMD.
Appears in Collections:Ph.D Theses (Open)

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