dc.creator | Papachatzopoulou, A. | en |
dc.creator | Kaimakis, P. | en |
dc.creator | Pourfarzad, F. | en |
dc.creator | Menounos, P. G. | en |
dc.creator | Evangelakou, P. | en |
dc.creator | Kollia, P. | en |
dc.creator | Grosveld, F. G. | en |
dc.creator | Patrinos, G. P. | en |
dc.date.accessioned | 2015-11-23T10:42:37Z | |
dc.date.available | 2015-11-23T10:42:37Z | |
dc.date.issued | 2007 | |
dc.identifier | 10.1002/ajh.20979 | |
dc.identifier.issn | 0361-8609 | |
dc.identifier.uri | http://hdl.handle.net/11615/31629 | |
dc.description.abstract | We report a novel set of genetic markers in the DNasel hypersensitive sites comprising the human P-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in beta-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3'HS1 (+179 C>T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in beta-thalassemia intermedia patients. In contrast, the HS-111 (+126 G>A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in y-globin genes expression. | en |
dc.source | American Journal of Hematology | en |
dc.source.uri | <Go to ISI>://WOS:000250358500011 | |
dc.subject | HUMAN HEMOGLOBIN-VARIANTS | en |
dc.subject | MOLECULAR HETEROGENEITY | en |
dc.subject | HYPERSENSITIVE | en |
dc.subject | SITES | en |
dc.subject | INHERITED DISORDERS | en |
dc.subject | HELLENIC POPULATION | en |
dc.subject | SEQUENCE VARIATIONS | en |
dc.subject | C->G MUTATION | en |
dc.subject | CHROMOSOMES | en |
dc.subject | HAPLOTYPE | en |
dc.subject | DATABASE | en |
dc.subject | Hematology | en |
dc.title | Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1 | en |
dc.type | journalArticle | en |