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Title: | Relative quantitation of mRNA in β-thalassemia/Hb E using real-time polymerase chain reaction |
Authors: | Watanapokasin Y. Winichagoon P. Fuchareon S. Wilairat P. |
Keywords: | alpha globin beta globin hemoglobin E messenger RNA article beta thalassemia clinical article controlled study disease severity gene sequence hemoglobin determination hemoglobinopathy human human cell pathogenesis polymerase chain reaction reticulocyte RNA analysis RNA splicing |
Issue Date: | 2000 |
Abstract: | β-Thalassemia and Hb E patients, with seemingly identical genotypes, have a remarkable variability in severity. Reduction in red cell survival in β-thalassemia is correlated with the amount of intracellular unmatched α- globin chains. However, it was only recently realized that mRNA, whose translation is prematurely terminated, is also unstable. No systematic attempts have been made to investigate mRNA stability in β-thalassemia arising from nonsense mutations located upstream from the normal termination codon. In this study, one-step real-time polymerase chain reaction has been employed to compare the levels of α- and β-globin mRNA in reticulocytes from β-thalassemia/Hb E subjects. The results showed the highest α/β- globin mRNA ratio (median = 5.70, n = 13) in frameshift codons 41/42 (- TTCT)/Hb E individuals compared to normal subjects (median = 1.02, n = 6), or those with Hb E trait (median = 2.15, n = 8). In addition, there was a concomitant increase in the α/β-globin mRNA ratio with decrease in hemoglobin level, i.e., increase in severity. The difference in the ratio among β-thalassemia/Hb E patients with the same genotype may be attributed to individual variations of efficiency in β(E)-globin mRNA splicing and in the destruction of prematurely terminated mRNA. |
URI: | https://ir.swu.ac.th/jspui/handle/123456789/15296 https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034092252&doi=10.3109%2f03630260009003429&partnerID=40&md5=28b5c16a0a40c207ff4cc33ad2cfdffc |
ISSN: | 3630269 |
Appears in Collections: | Scopus 1983-2021 |
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