| http://purl.uniprot.org/citations/19958188 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19958188 | http://www.w3.org/2000/01/rdf-schema#comment | "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 (A)gamma-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-1(G>A)/IVS-II-1(G>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."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.org/dc/terms/identifier | "doi:10.3109/03630260903336479"xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Zeinali S."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Akbari M.T."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Mahjoubi F."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Karimipoor M."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Hamid M."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/author | "Arab A."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/pages | "428-438"xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/title | "Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F."xsd:string |
| http://purl.uniprot.org/citations/19958188 | http://purl.uniprot.org/core/volume | "33"xsd:string |
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