G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.
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.
Tasiopoulou
Magdalini
M
National Centre for Thalassemia, WHO Collaborating Centre for the Community Control of Hereditary Diseases, Laiko General Hospital, KCS: GRE-21, Greece.
Boussiou
Marina
M
Sinopoulou
Klio
K
Moraitis
George
G
Loutradi-Anagnostou
Aphrodite
A
Karababa
Photini
P
D000328:Adult; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D005914:Globins / Q000235:genetics*; D006115:Greece; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic
D005914:Globins; D005319:Fetal Hemoglobin