Molecular analysis of gamma-globin promoters, HS-111 and 3HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F.Reportar como inadecuado




Molecular analysis of gamma-globin promoters, HS-111 and 3HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F. - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

* Corresponding author 1 Biotechnology Research Center 2 Department of Clinical Genetics 3 Department of Medical genetics, Faculty of Medical Sciences

Abstract : The nucleotide nt variations in the promoter region of the gamma-globin genes, HS-111 and 3-HS1 regions, were studied in Iranian patients with beta-thalassemia intermedia beta-TI, beta-thalassemia major beta-TM and healthy individuals. Of the five nt variations at the 5- end of the Agamma-globin gene -369 C>G -611 -T and -603-604 GA>AG were found in all samples, whereas -588 A>G and -AAGC at -222 to -225 were found at different frequencies in the studied groups. Therefore, the -369 -611 and -603-604 variations were considered common mutations in this population, and the difference with respect to the -AAGC deletion was not significant. However, the A allele of the -588 variation and + allele of the XmnI polymorphism were more frequent in beta-TI patients, especially those who had the IVS-II-1G>A-IVS-II-1G>A genotype. The + allele of XmnI also had complete correlation with the A allele of -588 variation. The HS-111 -21 A variation also showed association with beta-TI patients who had high levels of Hb F. Bearing in mind that the -588 variation lies within the postulated adult-specific silencer region and that the majority of beta-TI patients had allele A, then it can be envisaged that this allele could have a role in altering the repressor function at this region. Therefore, the A allele of -588, + allele of XmnI and HS-111 -21 A variation are useful genetic markers to differentiate between beta-TM and beta-TI patients. However, these nt changes alone may not be the only elements raising the level of Hb F, other regulatory and modifying factors also play a role in Hb F production.

Keywords : β-Thalassemia Fetal Haemoglobin Single-Strand Confirmation Polymorphism





Autor: Mohammad Hamid - Frouzandeh Mahjoubi - Mohammad T Akbari - Aida Arab - Sirous Zeinali - Morteza Karimipoor -

Fuente: https://hal.archives-ouvertes.fr/



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