Gγ-196 C→T, Aγ-201 C→T: Two novel mutations in the promoter region of the γ-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece
| Autor: | Magdalini Tasiopoulou, Marina Boussiou, Photini Karababa, Aphrodite Loutradi-Anagnostou, George Moraitis, Klio Sinopoulou |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Hereditary persistence of fetal hemoglobin Period (gene) Biology γ globin Fetal hemoglobin medicine Humans Promoter Regions Genetic Molecular Biology Gene Fetal Hemoglobin Genetics Greece Direct sequencing Promoter Cell Biology Hematology medicine.disease Molecular biology Globins Hemoglobinopathies Genes Mutation Molecular Medicine |
| Zdroj: | Blood Cells, Molecules, and Diseases. 40:320-322 |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2007.10.007 |
| Popis: | The increased level of fetal hemoglobin in nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH) is associated with several single base substitutions in the promoter region of either the (G)gamma- or the (A)gamma-globin genes. In this study, we report two new forms of nd-HPFH found in two unrelated Greek adults with high HbF production (8.6% and 10.2% respectively) and positive for the (G)gamma-158 C--T substitution. Scanning by DGGE analysis and direct sequencing of the gamma-globin gene 5' promoter region revealed the presence of a (G)gamma-196 C--T in the first case and an (A)gamma-201 C--T in the second. These mutations seem to reactivate gamma-genes and cause their high expression in the adult period. |
| Databáze: | OpenAIRE |
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